Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple cafe-au-lait spots: New acrocraniofacial dysostosis syndrome?

被引：1

作者：

Al-Sannaa, N

Forrest, CR

Teebi, AS

机构：

[1] Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

[2] Hosp Sick Children, Div Plast Surg, Toronto, ON M5G 1X8, Canada

[3] Ctr Craniofacial Care & Res, Toronto, ON, Canada

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2001年 / 101卷 / 03期

关键词：

acrofacial dysostosis; mandibulofacial dysostosis; oculo-auriculo-vertebral; MCA;

D O I：

10.1002/ajmg.1385

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a patient with a unique constellation of anomalies comprising trigonomicrocephaly, asymmetric severe micrognathia, large ears, atrioventricular septal defect, vertebral anomalies, bilateral cutaneous syndactyly of fingers and toes, unilateral cryptorchidism and multiple cafe-au-lait spots. The mother of the propositus has multiple cafe-au-lait spots. Search of POSSUM and the London Dysmorphology Database (LDDB) uncovered no similar case, We think that this patient represents a new acrocraniofacial dysostosis syndrome. (C) 2001 Wiley-Liss, Inc.

引用

收藏

页码：279 / 282

页数：4

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