Heredofamilial Bilateral Anophthalmia

Genetic heterogeneity of syndromic X‐linked recessive microphthalmia‐anophthalmia: Is Lenz microphthalmia a single disorder?

“… * NL, normal; NR, not reported; mcp, metacarpal; MR, mental retardation; antev, anteverted; abnl, abnormal; dupl, duplicated; DD, developmental delay; +, feature present, −, feature absent. Note that the present family was previously reported in Hoefnagel et al [1963], Ogunye et al [1975], and Brunquell et al [1984]. …”

Genetic heterogeneity of syndromic X‐linked recessive microphthalmia‐anophthalmia: Is Lenz microphthalmia a single disorder?

“… * NL, normal; NR, not reported; mcp, metacarpal; MR, mental retardation; antev, anteverted; abnl, abnormal; dupl, duplicated; DD, developmental delay; +, feature present, −, feature absent. Note that the present family was previously reported in Hoefnagel et al [1963], Ogunye et al [1975], and Brunquell et al [1984]. …”

Study of A Family with Clinical Features and Inheritance Pattern of Nance Horan Syndrome

“…In 1967, Fraccaro and colleagues 9 reported 9 males of four generations in a family which had congenital cataract. X-chromosomal cataract with microphthalmia, somatic anomalies, and mental retardation also were described by Hofnegel et al 10 In offspring of affected males, all the daughters are heterozygous and all sons are unaffected. A heterozygous female has a 50% chance of transmitting the mutated gene, she has a 25% chance of having an affected son and a 25% chance of having a carrier daughter.…”

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

“…Subsequent to the first report by Lenz (1955)4, there have been a large number of reports of X-linked recessive microphthalmia syndrome27–41. These reports show broad phenotypic variability in males with multiple congenital anomalies.…”

Genetic heterogeneity of syndromic X‐linked recessive microphthalmia‐anophthalmia: Is Lenz microphthalmia a single disorder?

“… * NL, normal; NR, not reported; mcp, metacarpal; MR, mental retardation; antev, anteverted; abnl, abnormal; dupl, duplicated; DD, developmental delay; +, feature present, −, feature absent. Note that the present family was previously reported in Hoefnagel et al [1963], Ogunye et al [1975], and Brunquell et al [1984]. …”

Study of A Family with Clinical Features and Inheritance Pattern of Nance Horan Syndrome

“…In 1967, Fraccaro and colleagues 9 reported 9 males of four generations in a family which had congenital cataract. X-chromosomal cataract with microphthalmia, somatic anomalies, and mental retardation also were described by Hofnegel et al 10 In offspring of affected males, all the daughters are heterozygous and all sons are unaffected. A heterozygous female has a 50% chance of transmitting the mutated gene, she has a 25% chance of having an affected son and a 25% chance of having a carrier daughter.…”

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

“…Subsequent to the first report by Lenz (1955)4, there have been a large number of reports of X-linked recessive microphthalmia syndrome27–41. These reports show broad phenotypic variability in males with multiple congenital anomalies.…”

Genetic heterogeneity of syndromic X‐linked recessive microphthalmia‐anophthalmia: Is Lenz microphthalmia a single disorder?

“… * NL, normal; NR, not reported; mcp, metacarpal; MR, mental retardation; antev, anteverted; abnl, abnormal; dupl, duplicated; DD, developmental delay; +, feature present, −, feature absent. Note that the present family was previously reported in Hoefnagel et al [1963], Ogunye et al [1975], and Brunquell et al [1984]. …”

Study of A Family with Clinical Features and Inheritance Pattern of Nance Horan Syndrome

“…In 1967, Fraccaro and colleagues 9 reported 9 males of four generations in a family which had congenital cataract. X-chromosomal cataract with microphthalmia, somatic anomalies, and mental retardation also were described by Hofnegel et al 10 In offspring of affected males, all the daughters are heterozygous and all sons are unaffected. A heterozygous female has a 50% chance of transmitting the mutated gene, she has a 25% chance of having an affected son and a 25% chance of having a carrier daughter.…”

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

“…Subsequent to the first report by Lenz (1955)4, there have been a large number of reports of X-linked recessive microphthalmia syndrome27–41. These reports show broad phenotypic variability in males with multiple congenital anomalies.…”