Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome

Lent microphthalmia syndrome is a rare X-linked recessive condition first d escribed by Lent in 1955 and comprises of anophthalmia, microcephaly, menta l retardation, external ear, digital, cardiac, skeletal, and urogenital ano malies. We present three brothers (ages 15 years, 9 years, and 18 months) a nd a maternal uncle (age 27 years) with congenital anophthalmia, delayed mo tor development, hypotonia, and moderate to severe mental retardation. They also have abnormally modeled ears, high-arched palate, pectus excavatum, f inger and toe syndactyly, clinodactyly, fetal pads, scoliosis, cardiac, and renal abnormalities. An obligate carrier had abnormally modeled ears and s yndactyly of the 2nd to 3rd toes bilaterally. Linkage and haplotype analysi s in this family indicates that the gene is located in a 17.65-cM region on chromosome region Xq27-Xq28. Am. J. Med. Gen. 98:92-100, 2001. (C) 2001 Wi ley-Liss, Inc.