Situs inversus totalis and congenital hypoglossia

被引：12

作者：

Amor, DJ ^{[1
]}

Craig, JE ^{[1
]}

机构：

[1] Royal Childrens Hosp, Victorian Clin Genet Serv, Parkville, Vic 3052, Australia

来源：

CLINICAL DYSMORPHOLOGY | 2001年 / 10卷 / 01期

关键词：

situs inversus; hypoglossia; micrognathia; Agnathia-holoprosencephaly; Aglossia-adactylia;

D O I：

10.1097/00019605-200101000-00010

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hypoglossia is a rare congenital malformation, occurring either as an isolated malformation or in association with other deformities, particularly limb defects. We describe a female infant with congenital hypoglossia, micrognathia and situs inversus. The main complications were airway compromise and feeding difficulties requiring tracheostomy and gastrostomy. Situs inversus and hypoglossia have been reported together on six previous occasions, with all cases being sporadic. Situs inversus-hypoglossia falls into a spectrum of aetiologically non-specific developmental field defects that Includes the Aglossia-adactylia spectrum and the Agnathia-holoprosencephaly spectrum. Situs inversus-hypoglossia may represent a mild form of Agnathia-holoprosencephaly. Clin Dysmorphol 10: 47-50 (C) 2001 Lippincott Williams & Wilkins.

引用

页码：47 / 50

页数：4