额鼻发育不全、胼胝体发育不全、交叉融合异位、胫骨半侧发育不全以及足部轴前多指畸形：是acrocallosal综合征的严重表现吗？

Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet: severe expression of the acrocallosal syndrome?

作者信息

Sueldo G, Fernandes M C

机构信息

Servicio de Pediatria y Neonatologia, Hospital N.S. de la Misericordia, Cordoba, Argentina.

出版信息

Am J Med Genet. 1993 Jun 1;46(4):355-7. doi: 10.1002/ajmg.1320460402.

DOI:10.1002/ajmg.1320460402

PMID:8357003

Abstract

We report on a girl with frontonasal "dysostosis," callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet. This pattern of the developmental defects suggests a severe form of the acrocallosal syndrome. Implications for genetic counselling are discussed.

摘要

我们报告了一名患有额鼻“发育不全”、胼胝体发育不全、交叉融合异位、胫骨半侧发育不全和足部轴前多指畸形的女孩。这种发育缺陷模式提示为严重形式的顶胼胝体综合征。文中讨论了对遗传咨询的意义。