HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS - ANOTHER CASE AND REVIEW

被引：10

作者：

LUDMAN, MD

VINCER, MJ

CRON, C

AGUIAR, M

COHEN, MM

机构：

[1] DALHOUSIE UNIV,FAC MED & ORAL BIOL,DEPT PEDIAT,HALIFAX B3H 3J5,NS,CANADA

[2] DALHOUSIE UNIV,FAC MED & ORAL BIOL,DEPT OTOLARYNGOL,HALIFAX B3H 3J5,NS,CANADA

[3] DALHOUSIE UNIV,FAC MED & ORAL BIOL,DEPT PATHOL,HALIFAX B3H 3J5,NS,CANADA

[4] DALHOUSIE UNIV,FAC DENT,HALIFAX B3H 3J5,NS,CANADA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 47卷 / 03期

关键词：

CRANIOSYNOSTOSIS; HYPOGNATHIA; MICROSTOMIA; HYPOGLOSSIA; PERSISTENT BUCCOPHARYNGEAL MEMBRANE;

D O I：

10.1002/ajmg.1320470311

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a third case of hypomandibular faciocranial dysostosis and review the literature. Manifestations include craniosynostosis, prominent eyes, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture, persistent buccopharyngeal membrane, and severe mandibular hypoplasia. In contrast to coronal synostosis found in the 2 earlier cases, our patient had multiple sutural synostosis. The 2 affected sibs reported earlier suggest the possibility of autosomal recessive inheritance. However, gonadal mosaicism for a dominant mutation or an undetected microdeletion must also be considered at this early stage in the delineation of this disorder. (C) 1993 Wiley-Liss, Inc.

引用

页码：352 / 356

页数：5