Pfeiffer syndrome type 2: case report
نویسندگان
چکیده
منابع مشابه
pfeiffer type i syndrome: a genetically proven case report
objective pfeiffer syndrome is as rare as apert syndrome in the western population. this condition is very rare in the asian population. at the best of our knowledge this is the first genetically proven case report from iran. the authors report with a review of literature, the case of a infant with pfeiffer syndrome, manifested by lacunar skull, ventriculomegaly, bicoronal craniosynostosis,fron...
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Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested by bicoronal craniosynostosis, broad thumbs, and big toes. The infant also had bilateral syndactyly of the fingers ...
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Type2 autoimmune polyglandular (Schmidt) syndrome is defined by the occurrence of at least 2 out of 3 of the following manifestations, Addison's disease, Hypothyroidism and Type 1 diabetes mellitus. APS2 is a rare condition with an incidence of 1–2/100 000 per year. Prevalence of APS-2 is most happening in the range of 20-40 years of age. Here we present a patient who complained about loss of ...
متن کاملPfeiffer syndrome
Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three...
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Ehlers-Danlos syndrome (EDS) is a clinically heterogeneous groupof inherited disorders with ten different types, all involving agenetic defect in collagen and connective-tissue synthesis andstructure that affecting the skin, joints, and blood vessels. EDStype VIA, a very rare kyphoscoliotic type, is autosomal recessiveand clinically characterized by soft extensible skin, laxity ofjoints and kyp...
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ژورنال
عنوان ژورنال: Sao Paulo Medical Journal
سال: 2003
ISSN: 1516-3180
DOI: 10.1590/s1516-31802003000400008