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

被引：13

作者：

Guion-Almeida, ML ^{[1
]}

Zechi-Ceide, RM ^{[1
]}

Richieri-Costa, A ^{[1
]}

机构：

[1] Univ Sao Paulo, HRAC, Dept Clin Genet, BR-17043900 Bauru, SP, Brazil

来源：

CLINICAL DYSMORPHOLOGY | 2000年 / 9卷 / 04期

关键词：

cleft lip/palate; ectrodactyly; growth retardation; CHD; acro-cardio-facial syndrome;

D O I：

10.1097/00019605-200009040-00007

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 ct nl. (1995) J Med Genet 32:72-74], and autosomal recessive inheritance was proposed. Clin Dysmorphol 9: 269-272 (C) 2000 Lippincott Williams & Wilkins.

引用

页码：269 / 272

页数：4

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