法伊弗综合征中的肛门直肠畸形

Anorectal anomaly in Pfeiffer syndrome.

作者信息

Ohashi H, Nishimoto H, Nishimura J, Sato M, Imaizumi S, Aihara T, Fukushima Y

机构信息

Division of Medical Genetics, Saitama Children's Medical Center, Japan.

出版信息

Clin Dysmorphol. 1993 Jan;2(1):28-33.

PMID:8298735

Abstract

A Japanese girl with Pfeiffer syndrome is described. She has clinical and radiological manifestations typical of the syndrome. In addition, she had an imperforate anus not described previously in the syndrome. This seems to expand the phenotype associated with Pfeiffer syndrome or represent a new acrocephalosyndactyly syndrome.

摘要

本文描述了一名患有 Pfeiffer 综合征的日本女孩。她具有该综合征典型的临床和放射学表现。此外，她还患有肛门闭锁，这在该综合征中此前未曾有过描述。这似乎扩展了与 Pfeiffer 综合征相关的表型，或代表一种新的尖头并指（趾）综合征。