一名巴西男孩身材矮小、耳部异常、单指并四指畸形、腭裂。
Short stature, abnormal ears, monodactylous tetraectrodactyly, cleft palate in a Brazilian boy.
作者信息
Richieri-Costa A, de Miranda E
机构信息
Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
出版信息
Am J Med Genet. 1988 Nov;31(3):559-64. doi: 10.1002/ajmg.1320310311.
PMID:3228138
Abstract
We report on a Brazilian boy presenting short stature, small ears with mild overfolding of the helices, monodactylous tetraectrodactyly and cleft palate. We suspect that he has a previously undescribed syndrome of presently unknown cause.
摘要
我们报告了一名巴西男孩，他身材矮小，耳朵小，耳轮轻度过度折叠，单指（趾）缺指（趾）畸形和腭裂。我们怀疑他患有一种目前病因不明、以前未被描述过的综合征。
Zotero 插件