The Lenz microphthalmia syndrome.
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.
Traboulsi
E I
EI
Center for Sight, Georgetown University Medical Center, Washington, D.C.
Lenz
W
W
Gonzales-Ramos
M
M
Siegel
J
J
Macrae
W G
WG
Maumenee
I H
IH
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