منابع مشابه
Tracheal 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 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 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 ...
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 کاملOphthalmic considerations in patients with Pfeiffer syndrome
Purpose We report here a newborn male infant with striking features consistent with severe Pfeiffer syndrome type II, including cloverleaf skull deformity with pansynostosis, extreme proptosis, upper extremity contractures, broad big toes and thumbs with varus deviation and genetic mutation in the FGFR2 gene. The authors review the ophthalmic complications in Pfeiffer syndrome and discuss the u...
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ژورنال
عنوان ژورنال: Archives of Otolaryngology–Head & Neck Surgery
سال: 2004
ISSN: 0886-4470
DOI: 10.1001/archotol.130.11.1298