SHORT STATURE, ROBIN SEQUENCE, CLEFT MANDIBLE, PRE/POSTAXIAL HAND ANOMALIES, AND CLUBFOOT - A NEW AUTOSOMAL RECESSIVE SYNDROME

被引：26

作者：

RICHIERICOSTA, A

PEREIRA, SCS

机构：

[1] Servico de Genetica Clinica, Hospital Pesquisa, Reab. de Lesoes Labio-Palatais, 17043 Bauru, SP

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 42卷 / 05期

关键词：

ACROFACIAL DYSOSTOSIS; LIMB ANOMALIES; CONSANGUINITY;

D O I：

10.1002/ajmg.1320420511

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on 5 unrelated Brazilian children with short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. Genetic aspects and phenotypic manifestations are compared with those of previous reports of acrofacial dysostoses and with other Robin sequence syndromes. We suspect that these patients present a previously undescribed autosomal recessive syndrome.

引用

页码：681 / 687

页数：7

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