Bilateral congenital coloboma of lids, fusion of gums and the temporomandibular joints.
Mandibulofacial dysostosis is a syndrome caused by delay in the development of the first visceral arch. This report describes a case which had fusion of the gums and temporomandibular joint, together with coloboma of both lids. This variant has not previously been reported.
D002972:Cleft Palate / Q000473:pathology; D003103:Coloboma / Q000473:pathology*; D005143:Eyelids / Q000002:abnormalities*; D005881:Gingiva / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000473:pathology; D013704:Temporomandibular Joint / Q000002:abnormalities*