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

Morton F. Goldberg, Victor A. McKusick

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)1128-1133
Number of pages6
JournalAmerican journal of ophthalmology
Volume71
Issue number5
DOIs
StatePublished - May 1971

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ASJC Scopus subject areas

  • Ophthalmology

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