X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome

A new pedigree of X-linked colobomatous microphthalmos is reported. Associated anomalies included microcephaly, mental retardation, short stature, dental diastema, anteverted simple pinnae, blepharoptosis, nystagmus, esotropia, and possibly pes varus. This syndrome appears similar to one described previously, in which microphthalmos was associated with microcephaly, vertebral and dental anomalies, renal and urogenital abnormalities, congenital heart disease, and digital defects. The rarity of X-linked inheritance of microphthalmos is stressed.