Ohashi H, Nishimoto H, Nishimura J, Sato M, Imaizumi S, Aihara T, Fukushima Y
Division of Medical Genetics, Saitama Children's Medical Center, Japan.
Clin Dysmorphol. 1993 Jan;2(1):28-33.
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.
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。
