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who discovered patau syndrome

A member asked:
Dr. Oscar Novick
57 years experience Pediatrics
T. Bartholin: Patau syndrome which is a duplication of chromosome 13 was originally described by thomas Bartholin's in 1657.

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A 51-year-old member asked:
Dr. Roman Alvarez
40 years experience Neonatology
What is it.: Patau's syndrome is the presence of various dysmorphic features in a child a set of three chromosomes 13. This is called trisomy, in this case, trisom ... Read More
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A 39-year-old member asked:
Dr. Nikolaos Zacharias
25 years experience Maternal-Fetal Medicine
Lethal Trisomy 13.: Patau syndrome refers to a perinatally lethal condition that results from an extra chromosome 13. It usually features holoprosencephaly microcephaly c ... Read More
A 50-year-old member asked:
Dr. Brad Goldenberg
35 years experience Pediatrics
Extra chromosome 13: Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from ch ... Read More
A 38-year-old member asked:
Dr. Maulik Shah
23 years experience Clinical Genetics
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 ... Read More
A 48-year-old member asked:
Dr. Heidi Fowler
24 years experience Psychiatry
Crouzonodermoskeleta: Crouzonodermoskeletal syndrome involves premature joining skull bones & acanthosis nigricans. Louis edouard octave crouzon (1874–1938) publishe ... Read More
A 55-year-old member asked:
Dr. Richard Roberts
45 years experience Pediatrics
Genetic evaluation: A clinical geneticist observed a person with Crouzon disease, and noticed acanthoses nigricans with no diabetes. Published the association. Then a s ... Read More
A 48-year-old member asked:
Dr. Troy Reyna
43 years experience Pediatric Surgery
Pediatrician: A good experienced pediatrician can make the diagnosis, especially if they have other patients with rett's.
A 41-year-old member asked:
Dr. Heidi Fowler
24 years experience Psychiatry
Crouzon syndrome : Louis edouard octave crouzon (1874–1938) published “une nouvelle famille atteinte de dysostose cranio-faciale héréditaire” in archives de médecine DE ... Read More
A 39-year-old member asked:
Dr. William Singer
50 years experience Pediatric Neurology
Asperger's disorder: There is no consistent chromosomal abnormality associated with asperger's disorder, either for males or females.
A 37-year-old member asked:
Dr. Stevan Cordas
56 years experience Internal Medicine
What do they have in: They all have abnormalities of autonomics and other nervous sytem problems.
A 47-year-old member asked:
Dr. Heidi Fowler
24 years experience Psychiatry
Hurler syndrome: Hurler syndrome = mucopolysaccharidosis type I . It was named after Gertrud Hurler.
A female asked:
Dr. Rebecca Gliksman
37 years experience Internal Medicine
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 ... Read More
A 59-year-old member asked:
Dr. Karl Muench
60 years experience Clinical Genetics
No, not linked.: Hemophilia a and hemophilia b are caused by mutations in genes f8 and f9, respectively, on the x chromosome. Patau syndrome results from trisomy 13 (t ... Read More
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A 41-year-old member asked:
Dr. Heidi Fowler
24 years experience Psychiatry
Alstrom syndrome: Symptoms often start in infancy or early childhood.
A 50-year-old member asked:
Dr. Ed Friedlander
43 years experience Pathology
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 ... Read More
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A 48-year-old member asked:
Dr. Carol Jacobs
Specializes in Pediatrics
Maybe: This is a complicated condition and many children will have developmental/intellectual delays. Best if you make an appointment with a Genetic Speciali ... Read More
A 43-year-old member asked:
Dr. Betty Keller
34 years experience Rheumatology
Yes: Yes it is a mutation in the fbn1 gene on chromosome 15. This gene is responsible for providing the instructions for making a protien called fibrillin ... Read More
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A 50-year-old member asked:
Dr. Yash Khanna
56 years experience Family Medicine
Disorder OF NERV SYS: Rett syndrome is a disorder of nervous system, it leads to developmental reversal, especially in areas of expression and hand use it happens mostly i ... Read More
A 48-year-old member asked:
Dr. Robert Stuart
44 years experience Family Medicine
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 mosa ... Read More
A 49-year-old member asked:
Dr. Yashica Robinson White
16 years experience Obstetrics and Gynecology
Yes: The cure for hellp syndrome is delivery. The good news is it usually develops late in the pregnancy. Although the baby maybe premature, many of them w ... Read More
A 47-year-old member asked:
Dr. Gutti Rao
Dr. Gutti Rao answered
45 years experience Hospital-based practice
Yes: Patients can recover from this syndrome if treated earlier and appropriately without significant comorbid conditions.
A 51-year-old member asked:
Dr. Vered Lewy-Weiss
27 years experience Pediatrics
Yes: Most females are born with 2 x chromosomes. Ts is a disorder resulting from missing one x chromosome or some part of it in the cells of the body. It ... Read More

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