Velofacioskeletal Syndrome

Clinical Features

Teebi et al. (1995) presented the cases of a woman and her daughter with an apparently 'new' short stature syndrome associated with facial and skeletal anomalies and hypernasality. The manifestations included hypertelorism with broad and high nasal bridge, epicanthal folds, narrow and high-arched palate, mild mesomelic brachymelia, short broad hands, prominent finger pads, hyperextensibility of hand joints, small feet, nasal voice, and normal intelligence. The mother had short stubby thumbs and the daughter had posteriorly angulated ears and delayed bone age. The morphology of the nose and the hypernasality suggested the velocardiofacial syndrome (192430), but resolution banding and fluorescence in situ hybridization showed no evidence of a 22q11 deletion. Features resembling Aarskog syndrome (305400) and Robinow syndrome (180700) were pointed out.