Oromandibular-limb hypogenesis syndrome: type II C, hypoglossia-hypodactylomelia.
A patient with oromandibular-limb syndrome, Type II C, hypoglossia-hypodactylomelia, is documented and the pertinent literature critically reviewed. In addition to limb and tongue anomalies the patient had hypognathia, microstomia, absent mandicular permanent incisors, and enamel dysplasia. Her unrelated parents and siblings are normal. Past medical history for drug exposure to the mother during pregnancy was negative.
D000328:Adult; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D008844:Micrognathism; D009958:Orofaciodigital Syndromes / Q000145:classification; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*; D014059:Tongue / Q000002:abnormalities*; D014071:Tooth Abnormalities / Q000150:complications