A patient with VACTERL association, amelia and hemifacial microsomia.
We report on a girl with anal atresia, renal aplasia, vertebral and rib anomalies, amelia and hemifacial microsomia. The patient demonstrates the overlap between the VACTERL association and the oculoauriculovertebral dysplasia. We propose that amelia is a severe manifestation of the limb defects which occur in these developmental dysplasias.
D000015:Abnormalities, Multiple / Q000473:pathology*; D004423:Ear / Q000002:abnormalities; D004480:Ectromelia / Q000473:pathology*; D005124:Eye Abnormalities / Q000473:pathology; D005146:Facial Asymmetry / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D013131:Spine / Q000002:abnormalities; D013577:Syndrome