#Ankyloblepharon

[slapfish-oc-blog]

Intro and stuff

Hello, I’m onyx (he/him/they)

I started this blog because I wanted to ramble about my fallout characters and not clutter up my other blogs ( @slapfish-artt and @slapfish-reblogz)

So um.. feel free to send me asks about them, I can anwser both in/out of character so uh yeah

Here are the fish boys (most of them)

Dr.Fracta/Valerie Evangelista

Story Summary;

Born on the island of Nantucket, Valerie always had an interest in computers, eventually going to the CIT for university (then going to mortuary school afterwards). They got a grant from the Atherstone Corporation (not important atm) to start their own small research facility back on Natucket. But that only lasted for about 3 years until it ate through all of her grant money. Turning to contract work to help keep her afloat, she met Sinclair after he hired her to improve the AI systems at the Sierra Madre Casino, learning about BIG MOUNTAIN through him. Lucky for her, Klein had just approved a new research facility (which was basically a big morgue) and he had no one to run it. She gets the position as department head of Artificial Intelligence, computing, and Thanatology technology at Reasearch facility X-54, giving her total scientific freedom to pursue her research to her heart’s content without the financial burden. She um.. went a bit crazy with that freedom (the flesh computer…). Eventually transferring her brain into a think tank after the war.

Also her and Borous are married teehee <3

Karma; Neutral (slightly evil)

Any pronouns, Bisexual

Three words to describe her;

Funky

Thorough

Affectionate

Liane Alberts (the lone wanderer/lil vault devil)

Story Summary;

Born to James and Catherine in the year 2258, Liane grew up in vault 101, being born with the same genetic condition as their father, complete ankyloblepharon in their right eye. It’s sealed, not being able to open. James made them use an eyepatch in order to hide their eye from the other vault dwellers. When they turned 19 however, James left the vault. The overseer sent guards to apprehend and execute liane. Luckily they escaped, killing the overseer and their best friend Amata in the process. Being out in the world for the first time, Liane had little empathy for the people of the wasteland, killing without mercy, blowing up megaton and destroying arefu. Yet they still felt a twang of sympathy for the people they killed, eventually their actions take more of a toll on them as they get older and realize what they had done. During the events of the battle for project purity (I don’t feel like summing up fallout 3 sorry) they spare colonel autumn, eventually meeting up with him in a dingy bar after they wake up from their coma. And they go on adventures and stuff, getting abducted and blowing up Detroit then accidentally blowing up Saint Louis then accidentally

Tldr They blow up a lot of stuff.

Karma; VERY evil

Non-binary they/them, aroace

Three words to describe them;

Funny

Snide

Regretful

Sal V. Bryon (courier 6)

Story Summary;

Born in Arroyo to the cousin of the chosen one, Sal was raised by the chosen one after her mother died and her father left. When she was about 4, she caught an awful illness that brought her to the brink of death, making her loose her hearing, forcing her to wear hearing aids for the rest of her life. When she was about 23 ish, she left arroyo, traveling around the west coast before settling in the Mojave region for 3 years. She worked as a courier for the Mojave express before um.. getting shot. She sides with Mr house in the end, mainly because she doesn’t want to run a city and he kinda has shit under control.

Karma; Good

Transwoman she/her/it (no defined sexuality)

Three words to describe them

Closeted (emotionally)

Brutal

Intelligent

Sander Dominguez (the Matador)

Story Summary;

Sanders people, the Espir were situated on the great salt lake for hundreds of years. As the legion was growing, they annexed the tribe quite brutally, killing every male over the age of 14. The legion hunter, the matador, Sander, was lucky enough to be 12 at the time. Before he left his home, his father gave him the prized family possession, a golden scimitar that had been passed down from generation to generation. After escaping, he headed west, eventually being rescued by a group of traders heading to arroyo. He would regret his decision, having to leave his mother and sister behind, but he would work hard to become strong, and he started killing any legionary he could find. He adopted the name “The Matador” after his first kill. He wiped out entire camps by himself and many other important figures to Caesar. He still is hunting for one ex legionary, Joshua graham, who was responsible for the death of all of the men in his village.

Karma; Good

Cis man (He/him), Gay

Three words to describe him;

Vengeful

Persistent

Cutthroat

Adam Bryon (the vault dweller)

Story summary;

Born in Vault 13 in the year 2118, Adam always had a strong personality, being easily able to sway a person over to his side or manipulate them to get what he wanted. After taking the G.O.A.T, he was placed in charge of the Vault PA system, playing “Vault DJ”, entertaining his other vault dwellers daily for nearly 20 years, eventually marring the overseers “granddaughter” Pat, although “she” was treated as a woman, he was actually a Transman, just not coming out to anyone besides his husband and a few close friends in fear of being ostracized by vault society, adopting the name Pan in secret. But after the water chip malfunction, Adam was chosen by the vaults computer to be sent out. Even though he and Pan both protested this decision, the overseer wouldn’t budge, sending Adam out into the wastes. After destroying the mutant army and bringing back the chip, he was forced out by the overseer, wandering to Shady sands before being found by his husband and a bunch of their friends. The vault 13 outcasts started a thriving community in the desert, Arroyo. After Pans death though, Adam took off, leaving control of the settlement to his eldest daughter Agatha.

Karma; Neutral

Cis man (He/Him), Gay

Three words to describe him;

Charming

Egotistical

Flamboyant

Rope Bryon (the chosen one)

Story summary

Born alongside his twin sister Tape to their mother Agatha in the year 2222, Rope was always the wild child, he was very hyper constantly, throwing tantrums and running around the village destroying objects, the only thing that would calm him down was healing powder and watching old cowboy movies on his grandfathers holotapes. When he was about nine-ish, his mother sent him on his first hunting trip with some older boys and men to hunt mirelurk near the coast. Rope was a natural born hunter, his talents with spears and bows was incredible for a boy his age. He ended up killing at least 25 mirelurks during the trip, gaining him admiration from his people. But only a month after he returned from his hunt, his twin sister had gotten mauled to death by an infant deathclaw while exploring the wilds near arroyo. Rope was with her, barely killing the creature and escaping with his own life, but still feeling the guilt of not being able to save his own sister for the rest of his life. When he turned 19, he was tasked to complete the temple of trails to see if he had what it took to be the chosen one to save his village from drought and retrieve the GECK, a terraforming device that would transform the arid landscape into fertile land. After retrieving the GECK and returning to arroyo, he found his village in ruin, the only survivor being the village spiritspeaker(psychic+doctor) Hakunin. He told him of the awful events that happened, how the enclave (old world American government) slaughtered and stole his people away. Rope was filled with a hatered he had never felt before, hunting down the enclave, tracking them to their oil rig and killing the president and blowing up the rig. Afterwards, using the GECK, Rope renewed the Arroyian landscape, Turning it into fertile marshlands. 40 years later, arroyo had been turned into a prosperous city, one of the biggest in the wastes, with lush farmland and lots of opportunities for the people who lived there.

Karma; Very Good

Trans man, He/They, Straight

Three words to describe him;

Wild

Forgiving

Brave

I hope you enjoy my boys as much as I do, feel free to ask me any questions about them teehee 🫶

[little-writings]

can i request a fanfic where mc is a veterinarian with her own clinic and the reason she meets jumin is because of elizabeth needing a checkup!

Oh my goodness absolutely! This was actually so fun to write! 

Anyhow, I hope you have an amazing day and enjoy!

———————————————————————————————————–

“How long has it been since Elizabeth 3rd has been to the vet?” V asked, grinning fondly as the snowy-white cat pressed against his legs, a purr beginning to rumble in her throat.  

“She doesn’t need to see a vet. She’s in perfect health.” Jumin remarked, fiddling with the cuffs of his sleeves absentmindedly. “I have a chef prepare her a perfectly figured diet, one of the most  accalimed groomers brush her coat once a week, and-”  

“They’re supposed to get examined yearly.”  

“Who are?”  

V scoffed. “Cats, dogs, and any other animal you could call a pet.”  

“I’ll see about having a house veterinarian come by.”  

“Well, I’ve actually been hearing quite a bit about a certain veterinarian. I think you’d like them.”  

“Are they on call?”  

“No, they have a well-established practice downtown.”  

“Then I’m not interested.” Jumin stated matter-of-factly. “Taking Elizabeth 3rd outside presents too many risks. She could get hurt, lost or both – or even worse. I would never forgive myself if that were to happen.”  

V’s brows furrowed behind his tinted frames. “They’re apparently one of the best in the country. I hear there’s not a pet they don’t get along with.”  

“I would hope so, being a professional. That doesn’t change the fact that it’s an on-site practice. Any potential danger to Elizabeth 3rd isn’t worth it.”  

“Do you really think I’d recommend something that could hurt Elizabeth 3rd?”  

Jumin jerked his head to V and found himself stumbling over his words, cornered by his own stubborn mind. “What? No, I ah – no of course not.”  

The ends of V’s lips curled up and he knelt down to scratch Elizabeth behind the ears, her quiet purring volume erupting to that of a lawnmower.  

“Then give them a try.”  

Jumin wrinkled his nose. “Why are you so adamant?”  

“Because,” V simpered. “I think you’d like them.”  

Jumin didn’t have to ask the next question for V to know what he was wondering.  

“They’re professional and very devoted to their work,” He rose to his feet and rummaged through his jacket, snagging a crisp, clean card from his pocket. He gave it to Jumin who eyed it curiously.  

“In fact, they remind me of you.”  

Jumin paused. Pawprints bordered the card alongside hearts and a phone number he supposed he had no choice but to call at this point. He hardly saw V enough these days, the last thing he wanted to do was disappoint him.  

“I’ll… I’ll think about it.”  

And so, later that evening, he found himself calling.  

“Loving Paws Animal Hospital, how can I help you?” The voice on the other line was sickeningly sweet and welcoming, as though dipped in honey and soaked in sugar.  

Jumin paused and bit the inside of his cheek, swallowing his pride. ”Yes, I’d like to speak to your lead veterinarian?”  

“MC? They’re currently with a client at the moment, but I’d be more than happy to transfer you to their voicemail. Have we seen the pet before?”  

“No. No one has.”  

The secretary must’ve been left at a loss at the stern tone and proclamation, but she did her best regardless against the statue that was Jumin Han.

“So, it’s a new pet?”  

“No.”

“Then… you’re a new client?”  

“Yes. Potentially.”  

Jumin heard an attempt at a stifled snicker and the hospital gained a mental strike in his mind.  

“Okay well, I’ll just go ahead and transfer you to MC’s voicemail. You have a wonderful day, sir!”

That sugary sweetness returned once more, perhaps even more high-pitched than it had been. There was a pause on the other line before your voicemail began. Your voice, in comparison, was light, airy. Jumin could only think of a pleasant song when listening to it – something he found himself falling into.

“Hi this is MC, I can’t get to the phone right now but if you’ll leave a message I’ll do my best to get back to you as soon as I can!”

Despite all the preparedness Jumin thought he might’ve had, he still managed to stumble the second that alerting sound went off.

“I-I ah yes – my name is Jumin Han, and I was considering setting up an appointment for my cat, Elizbeth 3rd. It’s just for an annual exam, though I don’t even think she really needs it she’s in pristine-”

Jumin realized he was rambling and cleared his throat sheepishly.

“Anyways, I was hoping I could ask you some questions before making a final decision. If you would call me back, it’d be appreciated. Thank you.”

Jumin let out a deep sigh and relented to the horrible process of waiting.

You returned the phone call in the evening when the warm oranges, purples, and slightest hues of a deep, murky blue were settling in and spreading overhead. Jumin answered in an instant.

“Hi! Is this Mr. Han?” Your voice was even softer beyond a recorded message. You sounded sweet, but just the tiniest bit tired.

“Yes. MC, isn’t it? I’ve heard many things about you.”

You chuckled. “Good things I hope.”

A smile tugged at Jumin’s face. “Good things only. It has set my expectations high.”

“Well, I’d be delighted to meet those expectations, Mr. Han. Now, what can I do for your Elizabeth 3rd?”

“Technically speaking, there is nothing that’s necessary. Elizabeth 3rd is perfectly taken care of. I simply can’t imagine any problems arising for such a creature.”

“And what kind of perfect creature is she?”

“She is a Persian.”

You thought for a moment, and Jumin could hear a pen tapping against a desk. “Persian cats can have some complications, even if they’re in otherwise perfect living conditions. Unfortunately, it just comes with the breed.”

A sudden twisting of knots appeared in Jumin’s stomach. He tensed. “Such as…?”

“Well, you know their cute little smushed faces? Like pugs their nasal passages are shorter and more susceptible to their environments.”

Jumin opened his mouth to speak, but you continued on like a textbook’s worth of knowledge had just been released.

“And Persians specifically are prone to polycystic kidney disease, and you have to watch out for that because if ignored when they reach eight or nine years old they could suddenly collapse and die-”

You stopped yourself. You might’ve not needed to jump to that immediate conclusion.

“But I uh – it is also perfectly possible that Elizabeth 3rd is in a completely healthy state!”

Jumin was now staring wide-eyed at Elizabeth 3rd who sat uncaringly in the center of the living room. She was grooming herself and only her tail was lightly swaying from side to side across the carpet. She appeared almost serene.

‘They could suddenly collapse and die.”

A pit crumpled in Jumin’s insides.

“When’s the soonest I can come in?”

You laughed nervously. There was a clicking of a computer mouse and a brief moment of silence where you glanced through the schedule. “I can squeeze you in tomorrow afternoon?”

“I’ll be there.”

“Mr. Han… are you okay?”

Jumin looked once more at Elizabeth 3rd who now raised her head to meet him. She closed and opened her eyes slowly, mewing.

“I will be when I know Elizabeth 3rd is okay.”

You sighed. “It sounds like Elizabeth 3rd has a very devoted pet parent. She is lucky to have you Mr. Han.”

“I am lucky to have her.”

The call ended soon after with you meekly attempting to assuage his fears, and Jumin beginning to pace about Elizabeth like any cause for concern he’d already miss would simply leap out for a dramatic entrance.

Jumin could now hardly wait for the appointment he considered pointless just hours ago.

V may or may not have received multiple texts of concerns throughout the night. The internet truly did not help the situation.

‘I read online that Persians with blue eyes can have something called Congenital ankyloblepharon. While the website says it’s not deadly, another said it’s linked to a fatal disease.’

‘Because of Elizabeth’s small nasal passage, a website is now telling me Elizabeth will more than likely develop a heart condition. Elizabeth 3rd does not deserve this.’

V had begged him to just wait until tomorrow and Jumin reluctantly agreed.

When the appointment finally arrived, Jumin had made sure Elizabeth would only travel in the best his wealth could provide. However, diamond-encrusted cat carriers apparently took a great deal of time to create, so a polyester and mesh carrier would have to do – lined with sherpa, of course, and filled with her favorite toys.

While Jumin had been anxious and fidgety the entire drive, Elizabeth 3rd was curious, excited even. When Elizabeth was pawing at the mesh lining to peek closer at the car window Jumin was tugging at his sleeves and holding his breath. Even Driver Kim took notice, though his support did little to ease his worries.

He only felt a little ease when he finally arrived at the clinic. The secretary had been stunned at the famous heir’s arrival, but quickly recognized his voice. Her surprise then shifted to amusement, a sly smile stretched across her face.

“Hello Mr. Han! How’re you doing today?”

Jumin furrowed his brow, glancing away. “I am… anticipating my meeting with MC.”

“Stressed for the little lady?” The secretary pointed with her pen to Elizabeth 3rd, now rolled over on her back and playing with one of her toys. This was easily one of her favorite days already.

“Very much so.” Jumin answered.

“We’ll be sure to get you in quick then.”

Jumin nodded hurriedly, and sat down. When his name was called he nearly tripped from how quickly he shot up. It was a… difficult day for maintaining composure.

He ran his fingers through his hair, took a deep breath, and then proceeded on through the hall where you waited in the consulting room.

He hadn’t quite known what he’d expected when he saw you, but he still found himself without words, if only for a second. Your face was kind, far more than the ones he’d known throughout his life with eyes that offered a sense of comfort to soften the stress so clearly brimming at the surface.

“Hi Mr. Han.” You set a ginger hand on Jumin’s shoulder, offering a warm smile. “I heard you’re feeling a little concerned for Elizabeth 3rd?”

“That is an understatement.”

You folded your lips in thought, drawing your hand away only to lightly clap, determined. “Well I’ve never met an animal I can’t help, and I don’t intend to stop now.”

A bit of the weight dropped from Jumin’s chest. You tapped against the examination table – a heavy counter in the center of the room with a smooth, thick surface.

The room itself was decorated with pictures of animals surrounded by varying degrees of puns. The one the most caught Jumin’s eye was a photo of a cat, tail tucked just over its paws and a sweet expression beneath the words, ‘you’re purrfect.’

He wondered if you chose that one personally. He hoped so.

Jumin unzipped the carrier atop the counter for Elizabeth 3rd to poke out. She only hesitated for a moment before stepping out to greet your hand, fingers outstretched for her to curiously sniff. You beamed at the very sight of her, leaning down as she dipped her head against your hand, eager to be pet.

“Hello, Ms. Elizabeth! Aren’t you beautiful?” You scratched her cheek and her purring began, akin to a lawnmower. “She’s so sweet!”

Jumin watched as you examined her, flashing a light in her eyes and ears, squeezing her tummy for any masses, and flexing her legs for achy joints. Her temperature was normal, not even a rapid heart rate.

“Now I don’t want to stress her out on her first visit but I recommend we do an ultrasound,” You had remarked, rubbing her belly in one of the rare opportunities that a cat not only tolerated such an action but enjoyed it. Elizabeth 3rd was a rare creature indeed. “It’s just to make sure she doesn’t have anything bad developing in her kidneys.” 

“Do you expect there to be anything?” 

Elizabeth pawed playfully at your fingers, pulling them close to rub her cheeks against them when you relented. You had to draw your gaze back to Jumin to keep yourself from becoming distracted. It was rare to see Elizabeth 3rd warming up to someone so quickly. “Do I?” 

You paused, and then laughed. “Of course you’re asking me, I’m sorry! I don’t know what got into me – she’s just such a cutie! But ah – no I don’t. Elizabeth 3rd is as close to perfect as it gets. You weren’t kidding when you said how well she’s taken care of.” 

“She means the world to me.” Jumin hummed, Elizabeth tipping her head to see him and meowing. She almost appeared to smile when he scratched just beneath her chin. 

“May I ask how you found her?” 

Jumin hesitated, remembering the golden hair and slender hands that once held Elizabeth. It brought a pang. 

“She was a gift from someone dear.” 

You could see Jumin’s sadness so easily. You could only make your best effort to soften the hurt. “They must’ve known you two would be perfect for each other.” 

Jumin lifted his head to look up at you, and you smiled. It was gentle, and at that moment, brighter than the very sun. You wore your heart on your sleeve, and it was beautiful. He grinned, if only gently. “Thank you.” 

“Just being honest.” 

The ultrasound was an experience. Jumin thought you had to be lying or attempting a cruel joke when you brought the clippers. There was simply no way you truly could want to ruin Elizabeth’s coat! 

You had promised only the ‘teeny-tiniest’ area would be shaved, but you also promised it’d be cute. Jumin couldn’t completely disagree. 

You had him hold her still during the ordeal, his hands folded over her front legs and keeping her close as you carefully ran the clippers over her stomach. Elizabeth simply rubbed her head against Jumin’s suit. 

“See! Look at that little pink tummy!” You pointed to the now thin white hairs where just between the faintest hints of skin could be spotted. You encouraged Jumin to run his hand over and it was… oddly soft if admittedly strange. 

“There’s no way you don’t think that’s adorable.” You exclaimed. 

“It’s not not adorable. 

That made you laugh. 

The procedure itself was quick and easy. The probe found no problems within Elizabeth’s kidneys and the only issue that arose was Elizabeth 3rd squeaking in surprise at the cold gel spread over her stomach. 

“I’m sorry sweetie, I’ll get this chilly stuff off you quick, okay?” 

You made plenty of little comments like those to Elizabeth 3rd. While many others would hardly regard something as minuscule you took every effort to make Elizabeth 3rd comfortable. Jumin noticed each and every time. You were doting. 

Just as you said, you wiped her clean, only peppering her in pets all over her belly and sides as she could rollover. 

“She is the picture of health, Mr. Han. The only thing I’d recommend is we make these ultrasounds yearly to keep an eye on her – and so I can see her again.” 

Jumin chuckled. “I take it she’s swept you off your feet?” 

“Like she’s my prince charming.” You snickered. “I’m a sucker for pretty kitties.” 

“I’m glad someone else can appreciate Elizabeth 3rd for her perfection.” 

You nodded. “I also appreciate the owner that’s given her the chance to flourish so much.” 

There was a different type of pang in his chest and the tiniest bit of red flickered upon Jumin’s cheeks. Either you didn’t notice, or you didn’t say anything. 

But you smiled. 

“I ah – I might need to bring her in again sooner than her next yearly. I’ve been researching and read of other conditions in her breed that I’d like to look into.” 

You caught on quick. “Right, and we wouldn’t want to overwhelm Elizabeth 3rd with so much on her first visit! It might be best to stretch these concerns over multiple appointments just so we can do the best job possible for her.” 

“And you can teach me what to look out for and how to find them.” Jumin settled Elizabeth 3rd back in her carrier, pawing at you through the mesh, pink pads just barely peeking through. 

“Of course! And you are more than welcome to call! In fact…” 

You tore off a piece of paper from your notes, scribbling quickly before giving it to him. “Here is my personal phone number, for any questions you may have.” 

Jumin smirked and tucked it away in his pocket. “I expect I could find quite a few until our next appointment.” 

You clicked your pen, simpering. “I’ll be patiently waiting, Mr. Han.” 

“Jumin is fine.” He stretched out his hand, palm open. “In fact, allow me to properly introduce myself – we weren’t given the proper chance. I’m Jumin Han. It is a pleasure to meet you.” 

Warmth reached your cheeks, but you didn’t object, returning the gesture with a firm grip. “MC. The pleasure is all mine. I really do look forward to seeing you again, Jumin.” 

It was rare Jumin could say the same, but for once he did, he truly, truly did. 

“As do I.” 

[juniperpublishersophthalmology]

Hay-Wells Syndrome: Case Report- Juniper Publishers

Juniper Publishers- JOJ Ophthalmology

Abstract

Introduction: Hay-Wells Syndromeis a rare disease with an autosomal dominant transmission. It is a type of ectodermal dysplasia, leading to impaired development of hair, nails, teeth and glands, usually in association with cleft palate and/or lip and ankyloblepharon. This syndrome is present at birth and diagnosis is made based on child phenotypic features. This study aims to describe a case of this syndrome.

Case report: Authors describe a case of a newborn with no history of parental consanguinity or other similar cases in the family. At birth alopecia, ankyloblepharon, cleftpalate, micrognatia and absent nails were detected. Surgical correction of ankyloblepharon was done. Postoperative period had no complications and after 12 months of follow-up lid edges are completely free.

Discussion: As a genetic disease, treatment is symptom-oriented. Antibiotic ointments can be used in skin lesions. Surgery is reserved for correction of cleft palate/lip and ankyloblepharon. Genetic counseling is recommended.

Keywords:   Syndrome; Ectodermal dysplasia; Ankyloblepharon cleft palate and lip

    Introduction

Hay-Wells Syndrome, also known as AEC syndrome (ankyloblepharon-ectodermal dysplasia- clefting syndrome), is a rare genetic disease [1], with an autosomal dominant transmission. Sporadic cases have, however, also been described. First described by Hay and Wells in 1976 [2], it was later found that it is caused by a p63 gene mutation, a known regulator of epithelial development/differentiation and homologous of the TP53 oncosupressor gene [3,4]. It is a type of ectodermal dysplasia, leading to impaired development of hair, nails, teeth and glands, usually in association with cleft palate and/or lip and ankyloblepharon. These are considered the cardinal signs of the syndrome by most authors. This syndrome is present at birth and diagnosis is made based on the child's phenotypic features. The authors aim to describe a case of a male newborn with the cardinal signs of this syndrome at birth, as it is a very rare syndrome with just a few cases reported worldwide.

    Case Report

Male white newborn with no history ofparental consanguinity or other similar cases in the family. The baby was born by spontaneous vaginal delivery after an uneventful pregnancy with good prenatal care. At birth alopecia, ankyloblepharon, cleft palate, micrognathia and absent nails were detected (Figure 1a,1b & 1c- Phenotypic features). Anterior segment was normal, with no detected anomalies in the lacrimal apparatus. The rest of the physical examination was normal.

Ophthalmic ultrasound revealed a normal posterior segment. Abdominal and pelvic ultrasound were normal. Head ultrasound showed a small cyst in the pellucid septum and an apparent thickening in optic chiasmal area. Further study with Cranial MRI was normal, thus excluding a septum-optic dysplasia. Blood tests (CBS, electrolytes, hepatic function, kidney function, imunophenotyping and immunoglobulin levels) revealed a decrease in immunoglobulin A (X; normal range X), with no other changes. Hearing tests were normal.

Dermatology consultation recommended topical streoids in scarceeczematous areas and daily mineral ointments. Later hair prosthesis was discussed with the parents. Surgical correction of ankyloblepharon was carried out by ophthalmologists. Tearing of lid bridges was done in the operating room, under general anesthesia, using an electric scalpel in both eyes (Figure 2- Surgical correction of ankyloblepharon). Careful tearing with gentle pulling of the eyelids was carried out in order not to damage the underlying cornea. Post-operative period had no complications and after 12 months of follow-up lid edges are completely free (Figure 3 - After 12 months of follow-up).

Cleft palate was complete, type III. Surgical correction was performed according to Furlow and Von Langenbeck procedures by pediatric surgeons. Blood molecular analysis of TP63 mutations and deletions/duplications was normal; we are still waiting for molecular analysis of mouth mucosa specimen. Unfortunately, it was not possible to have parental authorization to carry DNA analysis in their cells. Speech therapy was also prescribed.

    Discussion

Hay-Wells Syndrome, also known as AEC Syndrome (ankyloblepharon-ectodermal dysplasia-clefting), is a rare autosomal dominant disease [1]. Ankyloblepharon, ectodermal dysplasia signs and cleft palate are considered cardinal signs of this syndrome [5]. All of these features were present in our case.

Ankyloblepharon results from fusion, partial or total, of superior and inferior lid edges. In general, eyelids remain closed until the 5th week of gestation, when they open spontaneously. The mechanism underlying this phenomenon is still on debate, but many author point out keratinization as the key [6]. Accordingly, any kind of anomaly occurring between 7th and 15th week of gestation can result in eyelid anatomy changes [6]. Ankyblepharon can also be present in Trisomy 18 and CHAND Syndrome (Curly hair-Ankyblepharon-Nail Dystrophy), being associated with heart malformations, hydrocephaly, imperforated anus and glaucoma. Ankyblepharon should then be a warning sign for the possibility of other important simultaneous diseases [7].

Ectodermal dysplasias are a group of diseases in which there is impaired development of hair, teeth, nails, sweet glands and other structures originating from ectoderm [8,9]. These anomalies, when associated with other malformations, correspond to a group of ectodermal dysplasia syndromes that includes EEC Syndrome (ectodactilia-ectodermal dysplasia- clefting), Rapp-Hodgkin Syndrome and Chand Syndrome, the most important differential diagnosis of Hay-Wells Syndrome [9]. In our case, none of the other malformations were identified, so that Hay-Wells Syndrome diagnosis was straight forward.

Hay-Wells Syndrome patients can have various degrees of alopecia, thin and scarce hair, onicodystrophies, palmoplantar hyperkeratosis, cutaneous pigment changes [10], hypohidrosis, hypodontia, teeth malformations and ear anomalies. Lacrimal canal obstruction is common. Other described features include super numerary nipples, otitis media, hypospadia, middle-facial hypoplasia, hypertelorism, low height, mental retardation, deafness and other ocular deformities.

At birth, a descamative erythrodemia can be seen, with superficial erosion and crusts. Scalp area usually shows an erosive dermatitis, which is a common source of infection, putting these patients at an increased risk of bacterial superinfection and sepsis; this leads to an increase in mortality and morbidity rate in newborns with this syndrome. A lot of Hay-Wells Syndrome cases are erroneously diagnosed as bullous epidermolysis due to the presence of erythrodermia and extensive areas of erosion. It is thought that scalp lesions can disappear with age or lead to alopecia [3].

Although concerns exist about wound healing in patients with this syndrome, there have been no reported instances of wound healing complications. Cleft lip and palate repair can then be performed safely in patients with Hay-Wells syndrome.

This syndrome is caused by a p63 gene mutation, an homologous of p53 oncosupressor gene [3,4], which has a central role in epidermal stratification process, regulating basal keratocyts proliferative capacity. Evidence showing that changes in this gene can be associated with other diseases like EEC and Rapp-Hodgkins syndrome reveal the high pleomorphic effect of p63 gene mutations. Hay-Wells Syndrome results specifically from amino-acid substitution in SAM domain (sterile alpha motif) [3,4].

Timely diagnosis is essential. As a genetic disease with multiple phenotypic features, multidisciplinary action is of main importance and treatment is symptom-oriented. Antibiotic ointments can be used in skin lesions. Surgical treatment is reserved for correction of cleft palate/lip and ankyloblepharon. Genetic counseling is recommended.

    Disclosure statement

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[optometrui]

Hello, We are interested in using an Ankyloblepharon image found on your blog in our forthcoming publication. Please let us know what additional information you might need to proceed with this request.

Hello there! I apologize for seeing this quite late, I am not the original source of the image, so you would have to ask the original poster of the image. Thank you for politely asking!

[terminadora-blog]

Cheap Bahamas Vacation - A Trip to exotic shores

 The Bahamas is well known as a paradise for golfers, is truly a delightful experience to go there and spend time with beautiful scenery and exciting golf games. Bahamas is rich in golf courses and constant sunlight and the most appropriate climate makes it an ideal place for golf. Suitability and availability of several golf courses have attracted many organizers to organize world class tournaments. Perfect weather does not allow the golf stop and that is why it is the best destination for those who want to spend an unforgettable time with his family and golf. Are you one of those people who like golf and nature, and then go to the Bahamas and experience the most memorable moments with Bahamas golf vacation. Golf vacation in the Bahamas is the best way to streamline your life stale, not just a package holiday is as relaxing to relax the body and mind. Bahamas Island is a way of uniting seven hundred small islands, which means that when you come to the Bahamas you are getting the opportunity to visit seven hundred islands at a time. The most exciting golf holiday in the Bahamas is the variety of golf courses. Bahamas has a burgeoning number of golf courses, you can also find golf courses in their own local hotel, so you can not wait any longer to enjoy golf. In the Bahamas there are some exotic courses, but Nassau and Abaco most popular courses exotic green. With Bahamas golf vacation can enjoy a free shuttle from hotel to golf course. Not only transport but also free drink tickets are often provided by the rental manager. Along with easy courses, some courses are famous for their structure and larger hard. You will find all the courses in the Bahamas with extensive sand and water traps that makes the game more challenging and exciting. Those who are new to golf can be difficult, but for an experienced player who is great fun. If you are interested in golf, but not very much familiar with the tactics of the game then you can learn from golf instructors. With Bahamas golf vacation can enjoy everything around you, whether exotic or the wide land of golf. The most beloved to enjoy Bahamas golf vacation is sure to get the package managers Bahamas vacation. Like many travel agents and holiday operators offer the facility to book your vacation at home. Bahamas, golf vacation packages are available through several agencies and hotels that offer an exciting combination of golf and exotic beaches. In general, how to get better treatment is cheap Bahamas golf vacation package, offering a wide variety of services and tourist destination for cheap prize. With this you receive the most exciting holiday offer to them to fully enjoy without bothering about the budget. Never mind that the service tour or a vacation plan you choose, is sure to find the energetic as ever.

Farellones

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Pena Chilean Miner Gets Dream Come True, Will Meet in Las Vegas Elvis

 Some good things never die. They live well on. Such is the case with Elvis Presley, helped sustain a trapped miner, Chile, Edison Pena life for a 69 days.Beneath unprecedented surface of the earth a mile and a half below, Edison Pena was with 33 comrades in a phase of a miracle. After the collapse of the San Jose gold and copper mine in Chile's Atacama Desert North, the 33 miners emerged from the dust and rubble alive and well. The second phase of this miracle mining, the rescue took place without a hitch last Wednesday. (You should see the video of Edison's rescue again here!) Awesome! Edison Pena, a minor 12 to break the incredible ordeal, was an avid runner, keeping fit by jogging in the tunnels open that had not collapsed. A minor of 34 years, married, was also a big fan of Elvis. Elvis Presley Enterprises has got wind of this and in an effort to help Pena to make it through the days and nights until his rescue, sent a CD of "The King's" music, movies, a book reading, and sunglasses. Among the films of Elvis Pena appreciated: "Jailhouse Rock" and "Viva Las Vegas". Elvis Pena was the inspiration during those dark days buried alive.Well, Pena can start singing "Viva Las Vegas" because he and his wife received an invitation, compliments of Elvis Entertainment, Inc.. The Official Elvis of Las Vegas, Jesse Garon, will host the minor miracle of Chile in a VIP five star welcome which includes first class accommodations, show tickets for top acts, buffets, showgirls, and a chance to meet "The King". Pena will renew her vows with Elvis in a pink Cadillac, 1955 under the famous "Welcome to Las Vegas" sign. Sweet! Needless to say, Pena is probably "All Shook Up" on the trip to the world capital of entertainment. So was Jesse Garon, Elvis Vegas prevailing at the point of tears. So moved by the whole ordeal in the Chilean desert, Garon Pena wanted to come to Las Vegas a nice place for a desert experience higher. "How did these men have survived is nothing short of miraculous," said Garon. "The whole community and the fans around the world Elvis related and were inspired by the miner trapped underground since the first hearing on the fan of" The King "on Facebook." Pena has been reported to one of the most disadvantaged "Los 33," (The 33 men imprisoned), requesting a photograph of the sun once rescuers were able to send food and rations.To to complete dream Elvis Pena received an invitation to the estate of Elvis at Graceland, all expenses paid by Elvis Presley Enterprises. Representative Kevin Kern plans to give Pena a visit home in Memphis, the graves of Elvis and his family, and several exhibitions all over the field. Kern said: "We'll make him feel like a rock star." (No pun intended). Garon was so affected that he felt compelled to pay for a trip to Las Vegas Pena himself, expressing that every child deserves the best. When Pena and his wife arrive, they can expect to be showered with attention, care, and any good Las Vegas has to offer. Without doubt the hero of Chile and his wife will be a "red carpet" experience with all the food, excitement, entertainment, and bright lights (which will be light Pena!) And a lot of activities. Viva Las Vegas! Viva Los 33! To learn more about Elvis Entertainment, Inc., go here.For photos of "The 33" here.Sourcesmsnbc.msn.com, prnewswire.com go, usatoday.com, YouTube.com, vegaselvis.com, google. com

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The majestic landscape of Patagonia, Chile

 In the beautiful country of Chile can not be found ancient remains of Nothofagus called the Antarctic flora. The home in the forest of these natural treasures are outdated in the southern Andes of Patagonia, Chile. In the higher elevations of the special Patagonia Nothofagus pumilio trees can easily be found, the return of a season of changes in its leaves with the brightest color of blood. Another type of tree called krummholz former can be found in the Patagonia region of Chile. The tree is normally covered with lichen with a very stunted view it. It really gives the appearance of being in an ancient forest. Indians in the past sometimes eat the mold of these trees, which is considered a delicacy.Other plants can be found in Patagonia, Chile, Andes are coigüe, tepa, orchids, bromeliads, trees and peanuts. The constantly moist, humid conditions of the region give rise to most all year round green foliage. great diversity of animal and vegetable life in this region is due to the different landscapes. From the falls of snow covered mountains and coastal plains in southern Patagonia has them all. This place has the western Pacific Ocean, Antarctica south Andes to the east and the Atacama Desert to the north. Everything becomes an incredible habitat and see even more surprising when one looks down from above.There other plants that make the supernatural landscape of Patagonia. Conifers, such as the magnificent cypress and larch are found around the lakes of northern Patagonia. Some of these conifers are 2000 years old or older. It really is a holdover from the days when Indians roamed these lands only dark. Before the mountain had a steppe of creosote bush, berry bushes, Chaura, baby and broom sedge. Then there are the grasses, some created by humans, since the destruction caused in parts of Patagonia, where goats graze the property of local farmers who still inhabit the region. Were also created by excessive logging. Many trees in this land are prized for their unique wood.Patagonia is a very famous place for bird watching with the most famous birds are Magellanic penguins, cormorants, gulls and Antarctic birds. Other animals that inhabit the area are deer, wild boar, pumas, guanacos, armadillos, ostriches, and poisonous spiders Viudita. Despite the rich environment is virtually no poisonous or exotic wildlife, as seen in the Amazon jungle. Patagonia is very close to Antarctica and has a definite winter season.Patagonia has been inhabited by people from 10 BC, the time when agriculture first appeared Holcene, with the first humans who along with other tribes Tehuelches indigenous peoples. Later, these people are under the domination of the Mapuche tribes speaking taught them agriculture and animal domestication. The first European explorer in Patagonia was Ferdinand Magellan who named the region after a character from her favorite book. The year was 1520 when he stopped short in Patagonia before taking off to explore the rest of the world. In 1850 the explorers of Wales in Britain to go where Magellan had left. They were amazed by the images of another world that surrounds them and the various animals came upon.Sources: http://www.patagonia-argentina.com/i/content/florayfauna.phphttp://en.wikipedia.org/wiki / Patagoniahttp: / / www.pbs.org / edens / Patagonia / history.htm

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