Simosa Craniofacial Syndrome

Clinical Features

Simosa et al. (1989) described the cases of a mother and son with high forehead, elongated and flattened face, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose and hypoplastic nostrils, long philtrum, microstomia, high and narrow palate, nasal speech, chin dimples, and a highly unusual bilateral auricular malformation. Intelligence and hearing were normal. Although to some extent the facies suggested the 'whistling face' syndrome (193700), it appeared to be a distinct entity.