Apert Syndrome: A Case Report and Review of Literature
نویسندگان
چکیده
منابع مشابه
Apert syndrome: A case report and review of the literature
Apert syndrome is the rare acrocephalosyndactyly syndrome type 1, characterized by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. It demonstrates autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptor gene. Presently described is case of a 19-year-old female patient diagnosed on physical examination with Apert syndro...
متن کاملApert Syndrome: A Case Report and Review of Literature
Apert syndrome, also known as acrocephalosyndactyly, is one of the causes of craniofacial syndrome or deformity. It is a rare congenital disorder characterized by premature fusion of cranial sutures (craniosynostosis), malformation of skull, hands, face and feet. This congenital deformity has incidence of 1/50,000 to 1/80,000 live births and is an autosomal dominant in inheritance. Apert syndro...
متن کاملApert Syndrome: A Case Report
Apert syndrome is a genetic defect which was first described by Eugene Apert in 1906. itchr('39')s incidence is approximately one in 50000 births. This syndrome is many abnormalities in your body and Central Nervous System. rehabilitation can increase children and their parentchr('39')s quality of life.We report a case of Apert syndrome and his occupational therapy program.
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Apert’s syndrome is an autosomal dominant inherited disease characterized mainly by achrocephalia due to synostosis of the coronary suture and by usually symmetrical syndactyly involving the four extremities. In most cases the disorder results from a mutation in the father; its prevalence at birth is 1:65,0003 and the incidence in Asians is high.4 Mental retardation is common. The literature sh...
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McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities. We describe a girl patient with MAS having precocious puberty and multiple cafe-au-lait macules and deforming polyostotic fibrous dysplasia of bone. Clinical presentat...
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ژورنال
عنوان ژورنال: Open Journal of Pediatrics
سال: 2016
ISSN: 2160-8741,2160-8776
DOI: 10.4236/ojped.2016.62026