Amor D J, Craig J E
Victorian Clinical Genetics Service, Royal Children's Hospital, Parkville, Australia.
Clin Dysmorphol. 2001 Jan;10(1):47-50. doi: 10.1097/00019605-200101000-00010.
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.
舌下缺失是一种罕见的先天性畸形，可单独出现或与其他畸形，尤其是肢体缺陷合并出现。我们描述了一名患有先天性舌下缺失、小颌畸形和内脏反位的女婴。主要并发症是气道受压和喂养困难，需要进行气管造口术和胃造口术。之前曾有6次报道过内脏反位和舌下缺失同时出现的情况，所有病例均为散发性。内脏反位-舌下缺失属于病因非特异性发育领域缺陷的范畴，包括无舌-无指畸形谱系和无颌-前脑无裂畸形谱系。内脏反位-舌下缺失可能代表无颌-前脑无裂畸形的一种轻度形式。
