唇腭裂、耳部异常、缺指（趾）畸形、先天性心脏缺陷和生长发育迟缓：心-面-肢体综合征的定义。

Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome.

作者信息

Guion-Almeida M L, Zechi-Ceide R M, Richieri-Costa A

机构信息

Department of Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Brasil.

出版信息

Clin Dysmorphol. 2000 Oct;9(4):269-72. doi: 10.1097/00019605-200009040-00007.

DOI:10.1097/00019605-200009040-00007

PMID:11045583

Abstract

We report on a male patient with a constellation of malformations, including cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect (CHD), and growth retardation. A similar association has been previously reported twice [Richieri-Costa and Orquizas (1987) Rev Brasil Genet X:787-792; Giannotti et al. (1995) J Med Genet 32:72-74], and autosomal recessive inheritance was proposed.

摘要

我们报告了一名患有一系列畸形的男性患者，这些畸形包括唇腭裂、耳部异常、缺指（趾）畸形、先天性心脏病（CHD）和生长发育迟缓。此前已有两次关于类似综合征的报道[Richieri-Costa和Orquizas（1987年），《巴西遗传学杂志》X：787 - 792；Giannotti等人（1995年），《医学遗传学杂志》32：72 - 74]，并提出为常染色体隐性遗传。