轴前及轴后多指（趾）畸形、小头畸形和上睑下垂。

Pre and post axial polysyndactyly, microcephaly and ptosis.

作者信息

Engelhard D, Yatziv S

出版信息

Eur J Pediatr. 1979 Jan 18;130(1):47-51. doi: 10.1007/BF00441898.

Abstract

A five-year-old boy of Iranian origin with multiple anomalies is described. His parents are first and second cousins. He presented with short stature, psychomotor retardation, microcephaly, ptosis, dacryostenosis, partial left nerve deafness, high arched palate, bifid uvula, total fusion between incisors, asymmetric preaxial and postaxial polysyndactyly, brachyphalangy, kyphosis and spina bifida occulta of S1. To our knowledge, a similar case has not been reported previously.

摘要

本文描述了一名患有多种异常的5岁伊朗裔男孩。他的父母是近亲（表兄妹）。该男孩表现为身材矮小、精神运动发育迟缓、小头畸形、上睑下垂、泪道狭窄、左耳部分神经性耳聋、高拱腭、悬雍垂裂、门牙完全融合、轴前和轴后多指（趾）畸形不对称、短指（趾）畸形、脊柱后凸以及S1隐性脊柱裂。据我们所知，此前尚未报道过类似病例。