Aarskog syndrome: new oral-facial findings.
The Aarskog syndrome is characterized by short stature with typical facial, digital and genital anomalies. A further case is reported which presented with the uncommon finding of ophthalmoplegia and three previously unreported oral-facial findings: enamel dysplasia, a "col" deformity of the anterior mandible and a paresis of the facial muscles innervated by the VII cranial nerve. The implications of genetic heterogeneity in this nosologic classification are discussed.
D000015:Abnormalities, Multiple; D000293:Adolescent; D000567:Amelogenesis Imperfecta; D005145:Face; D005158:Facial Paralysis; D005837:Genitalia, Male / Q000002:abnormalities; D006130:Growth Disorders; D006801:Humans; D008297:Male; D008334:Mandible / Q000002:abnormalities; D008437:Maxilla / Q000002:abnormalities*; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014786:Vision Disorders