Pfeiffer Syndrome, Type II
نویسندگان
چکیده
منابع مشابه
Pfeiffer 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...
متن کاملTracheal anomalies in Pfeiffer syndrome.
OBJECTIVE To determine the types and frequency of airway anomalies in patients with Pfeiffer syndrome. DESIGN Retrospective case series. SETTING Academic tertiary care pediatric hospital. PARTICIPANTS Eleven patients with Pfeiffer syndrome, 6 of whom were severely affected, were identified. All were included in the study. MAIN OUTCOME MEASURES Presence of tracheal anomalies, need for tr...
متن کاملpfeiffer 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...
متن کاملA Case of Pfeiffer Syndrome
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 ...
متن کاملHigh-grade vesicoureteral reflux in Pfeiffer syndrome.
Received November 2007 Accepted March 2008 INTRODUCTION In 1964, Pfeiffer described an acrocephalosyndactyly syndrome consisting of bicoronal craniosynostosis, midface hypoplasia, broad thumbs, broad big toes, and partial and variable soft-tissue syndactyly of the hands and feet.(1) Autosomal dominant inheritance with complete penetrance is the main characteristic despite variable expressivity ...
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ژورنال
عنوان ژورنال: Journal of Perinatology
سال: 2001
ISSN: 0743-8346,1476-5543
DOI: 10.1038/sj.jp.7210568