منابع مشابه
Crouzon’s Syndrome: A Rare Genetic Disorder
Crouzon's syndrome, also known as brachial arch syndrome, is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon's syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Normally, the sutures in the human skull fuse after the complete growth of the b...
متن کاملBohring-opitz syndrome - A case of a rare genetic disorder.
The diagnostic challenge of Bohring-Opitz Syndrome, a rare genetic disorder has haunted clinicians for ages. Our patient was born at term via caesarean-section with a birth weight of 1.95 kilograms. She had mild laryngomalacia, gastroesophageal reflux disease and seizures. Physical signs included microcephaly, hemangioma, low set ears, cleft palate, micrognatia and the typical BOS posture. Chro...
متن کاملMarfan syndrome a rare genetic disorder: - A case report
Corresponding authorDr. Kavita Paul,Department of Medicine,GGS Medical College and Hospital,Faridkot, 151203, Punjab, India.Email: [email protected] This article may be cited as:Paul K,Kazal HL,Bairwa NK,Verma s. Marfan syndrome a rare genetic disorder: A case report 2016;2(1):33-6 Article Recieved On: 10-2-16 Accepted On: 19-3-2016 NTRODUCTION Marfan syndrome (MFS) is a spectrum disorder ...
متن کاملHutchinson-Gilford Progeria Syndrome: A Rare Genetic Disorder
Hutchinson-Gilford progeria syndrome (HGPS) is a rare pediatric genetic syndrome with incidence of one per eight million live births. The disorder is characterised by premature aging, generally leading to death at approximately 13.4 years of age. This is a follow-up study of a 9-year-old male with clinical and radiographic features highly suggestive of HGPS and presented here with description o...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Community Based Medical Journal
سال: 2013
ISSN: 2408-848X,2226-9290
DOI: 10.3329/cbmj.v1i2.13863