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Doctor insights on: Who Discovered Apert Syndrome

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Who discovered patau syndrome?

Who discovered patau syndrome?

T. Bartholin: Patau syndrome which is a duplication of chromosome 13 was originally described by thomas bartholin in 1657. ...Read more

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Which person discovered crouzonodermoskeletal syndrome (crouzon syndrome)?

Which person discovered crouzonodermoskeletal syndrome (crouzon syndrome)?

Crouzon: Crouzon craniofacial dysostosis was described by crouzon in 1912. The genetic cause was not identified until 1994 and the credit goes to a number of different geneticists - reardon and preston independently helped narrow the genetic inheritance to the fgfr2 gene. ...Read more

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Who discovered crouzonodermoskeletal syndrome (crouzon syndrome)? What is it?

Who discovered crouzonodermoskeletal syndrome (crouzon syndrome)? What is it?

Crouzonodermoskeleta: Crouzonodermoskeletal syndrome involves premature joining skull bones & acanthosis nigricans. Louis edouard octave crouzon (1874–1938) published “une nouvelle famille atteinte de dysostose cranio-faciale héréditaire” in archives de médecine DES enfants, paris, in 1915. So I am guessing that he discovered crouzon syndrome prior to that publication. ...Read more

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What is hurler syndrome? Who discovered it?

Hurler syndrome: Hurler syndrome = mucopolysaccharidosis type I . It was named after Gertrud Hurler. ...Read more

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How was crouzonodermoskeletal syndrome discovered?

How was crouzonodermoskeletal syndrome discovered?

Genetic evaluation: A clinical geneticist observed a person with Crouzon disease, and noticed acanthuses nigricans with no diabetes. Published the association. Then a second case report. finally enough for the splitters to win, and they made up the godawful name, which seems to be attracting a lot of questions suddenly, and I really would like to know if this is cause some biology professor handing out homework. ...Read more

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Who makes rett syndrome diagnosis?

Who makes rett syndrome diagnosis?

Pediatrician: A good experienced pediatrician can make the diagnosis, especially if they have other patients with rett's. ...Read more

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Who discovered Freeman-Sheldon syndrome? What is it?

Who discovered Freeman-Sheldon syndrome? What is it?

Freeman-Sheldon SYN.: AKA distal arthrogryposis type 2A (DA2A), craniocarpotarsal dysplasia Cranio-carpo-tarsal syndrome was brought to light by Freeman and Sheldon. ...Read more

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Is there any doctor with experience of seeing patients with Cowden's syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN hamartoma tumour syndrome?

Is there any doctor with experience of seeing patients with Cowden's syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN hamartoma tumour syndrome?

Cowden Syndrome: http://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome http://ghr.nlm.nih.gov/condition/cowden-syndrome http://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/8 Those are fairly rare disease Perhaps the above links could assist you. Seems like University of Iowa does have expertise. ...Read more

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When was crouzonodermoskeletal syndrome discovered?

When was crouzonodermoskeletal syndrome discovered?

Crouzon syndrome : Louis edouard octave crouzon (1874–1938) published “une nouvelle famille atteinte de dysostose cranio-faciale héréditaire” in archives de médecine des enfants, paris, in 1915. So I am guessing that he discovered crouzon syndrome prior to that publication. ...Read more

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Best treatment for someone who has prader-willi syndrome?

Best treatment for someone who has prader-willi syndrome?

Supportive: Growth hormone, a structured environment, airway pressure for the sleep apnea. Sooner or later, we'll find the hormonal basis of the food cravings and be able to fix it. Good luck. ...Read more

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Can someone with Jacobsen syndrome have children?

Can someone with Jacobsen syndrome have children?

Maybe: This is a complicated condition and many children will have developmental/intellectual delays. Best if you make an appointment with a Genetic Specialist who can guide you through the diagnosis and possible outcomes. Here's an article that you may find helpful. http://ghr.nlm.nih.gov/condition/jacobsen-syndrome ...Read more

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Can someone with turner syndrome have kids?

Can someone with turner syndrome have kids?

Perhaps: Females with turner's syndrome have only one normal x chromosome and have amenorrhea, no ovulation, and are sterile. There is a condition called mosaic where there may be a defective or partial x chromosome along with a normal one. Now, with modern technology such as oocyte donation some women with turner's may carry a pregnancy. There are other risks, however. ...Read more

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Has anyone been diagnosed with hughes syndrome? Is it a rare disease?

Has anyone been diagnosed with hughes syndrome?  Is it a rare disease?

More familiar name: This is better-known as antiphospholipid antibody syndrome, which can be seen in lupus or "just happens". An antibody against a molecular unit involved in blood clotting actually makes the cascade work too well. It's dangerous, and you will probably want to be treated by a specialist. ...Read more

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Does the Asperger syndrome have xyy chromosome?

Does the Asperger syndrome have xyy chromosome?

Not by definition: Someone with xyy may has asperger's disorder but that is not part of the disorder itself. ...Read more

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Has anyone experienced stevens-johnsons syndrome and done ok?

Has anyone experienced stevens-johnsons syndrome and done ok?

Yes: Patients can recover from this syndrome if treated earlier and appropriately without significant comorbid conditions. ...Read more

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How is Stockholm syndrome diagnosed?

Stockholm: By initially noticing the victim being sympathetic toward his/her captors, AKA identification with the aggressor. ...Read more

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How is asperger's syndrome diagnosed in humans?

How is asperger's syndrome diagnosed in humans?

Questionaires: Mainly based on scoring answers on standardized questionnaires focused on asperger's symptoms. ...Read more

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Is treacher collins syndrome a genetic disease?

Is treacher collins syndrome a genetic disease?

Yes: In some patients it is a new mutation, while in others it is passed down from a parent. ...Read more

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