We examined two patients with the Lenz microphthalmia syndrome. When findings from these two patients and those from ten other patients in the literature were combined, the following abnormalities were observed: microphthalmos in all patients; developmental retardation in 11 patients (92%); external ear abnormalities in ten patients (83%); microcephaly in ten patients (83%); blepharoptosis in nine patients (75%); skeletal anomalies (excluding digital anomalies) in eight patients (67%); dental abnormalities of number and position in eight patients (67%); digital anomalies in seven patients (58%); urogenital anomalies in six patients (50%); and cleft lip and palate abnormalities in four patients (33%). Cardiac anomalies, imperforate anus, hearing loss, spastic diplegia, sacral pits, webbed neck, and abnormal dermatoglyphs were rarely seen. One of our two patients had a dislocated lens and retinal detachment.
ASJC Scopus subject areas