Oromandibular limb hypogenesis syndromes.
The oromandibular limb hypogenesis syndrome is a group of anomalies affecting the mandible, tongue, and maxilla with or without reductive limb anomalies. Their genetic origin is uncertain, and no drug-induced teratogen has been clearly identified. Although many similarities exist on both an embryologic and clinical level, distinction between these entities is appropriate. A new classification system with these principles in mind is presented. Two cases are presented of glossopalatine ankylosis with hypodactyly representing the thirteenth and fourteenth cited in the world literature. One patient presented with a fatal pulmonary hypoplasia not previously reported in association with this syndrome. Three of the 14 cases with reductive limb anomalies reported have had fatal outcomes.
D000015:Abnormalities, Multiple / Q000145:classification / Q000473:pathology*; D000844:Ankylosis / Q000145:classification / Q000473:pathology; D001132:Arm / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007866:Leg / Q000002:abnormalities; D008297:Male; D008334:Mandible / Q000002:abnormalities*; D008437:Maxilla / Q000002:abnormalities*; D008844:Micrognathism / Q000145:classification; D010855:Pierre Robin Syndrome / Q000145:classification / Q000473:pathology; D013577:Syndrome; D014059:Tongue / Q000002:abnormalities*