Situs inversus totalis and congenital hypoglossia.
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.
Amor
D J
DJ
Victorian Clinical Genetics Service, Royal Children's Hospital, Parkville, Australia. amord@cryptic.rch.unimelb.edu.au
Craig
J E
JE
D005260:Female; D016142:Holoprosencephaly / Q000145:classification; D006801:Humans; D007223:Infant; D008334:Mandible / Q000002:abnormalities*; D012857:Situs Inversus / Q000150:complications / Q000175:diagnosis*; D013577:Syndrome; D014059:Tongue / Q000002:abnormalities*