title: The Lenz microphthalmia syndrome.
abstract: 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.
authors.affiliation: Center for Sight, Georgetown University Medical Center, Washington, D.C.
authors.forename: E I
authors.initials: EI
authors.lastname: Traboulsi
authors.forename: W
authors.initials: W
authors.lastname: Lenz
authors.forename: M
authors.initials: M
authors.lastname: Gonzales-Ramos
authors.forename: J
authors.initials: J
authors.lastname: Siegel
authors.forename: W G
authors.initials: WG
authors.lastname: Macrae
authors.forename: I H
authors.initials: IH
authors.lastname: Maumenee
mesh_terms: D000015:Abnormalities, Multiple; D002675:Child, Preschool; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D008850:Microphthalmos / Q000235:genetics / Q000473:pathology; D013577:Syndrome; D014960:X Chromosome