ACROCALLOSAL SYNDROME - REPORT OF A BRAZILIAN GIRL

被引：16

作者：

GUIONALMEIDA, ML ^{[1
]}

RICHIERICOSTA, A ^{[1
]}

机构：

[1] UNIV SAO PAULO,HOSP PESQUISA & REABILITACAO LESOES LABIO PALATAIS,SERV GENET CLIN,POB 620,BR-17043 BAURU,SP,BRAZIL

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 06期

关键词：

FRONTONASAL DYSOSTOSIS; ACROFRONTO-FACIO-NASAL DYSOSTOSIS WITH GENITOURINARY ANOMALIES; GREIG CEPHALOPOLYSYNDACTYLY SYNDROME;

D O I：

10.1002/ajmg.1320430606

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a Brazilian girl born to nonconsanguineous parents and presenting with frontonasal dysostosis, callosal agenesis, abnormal upper lids, cleft lip/palate, redundant skin in the neck, grooved chin, and bifid thumbs. Major diagnostic criteria present in this patient are related to the acrocallosal syndrome. The clinical and major nosologic aspects of this condition are discussed.

引用

页码：938 / 941

页数：4

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