身材矮小、智力迟钝、眼部异常以及唇腭裂。
Short stature, mental retardation, eye anomalies, and cleft lip/palate.
作者信息
Richieri-Costa A, Guion-Almeida M L
机构信息
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
出版信息
Am J Med Genet. 1992 Feb 15;42(4):449-52. doi: 10.1002/ajmg.1320420407.
PMID:1609826
Abstract
The syndrome: We describe 3 Brazilian brothers presenting a cluster of signs strongly suggesting a "new" MCA/MR syndrome. The main clinical signs include short stature, microbrachycephaly, mental retardation, palpebral ptosis, coloboma of iris and retina, nystagmus, strabismus, and cleft lip/palate. This is either an autosomal or X-linked recessive trait.
摘要
综合征
我们描述了3名巴西兄弟，他们表现出一系列症状，强烈提示一种“新的”MCA/MR综合征。主要临床症状包括身材矮小、小头短头畸形、智力发育迟缓、眼睑下垂、虹膜和视网膜缺损、眼球震颤、斜视以及唇腭裂。这是一种常染色体或X连锁隐性性状。
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