The Nance‐Horan syndrome: a rare X‐linked ocular‐dental trait with expression in heterozygous females

David Bixler, Michael Higgins, James Hartsfield

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47 Citations (Scopus)

Abstract

This report describes two families with the Nance‐Horan syndrome, an X‐linked trait featuring lenticular cataracts and anomalies of tooth shape and number. Previous reports have described blindness in affected males but posterior sutural cataracts with normal vision as the primary ocular expression in heterozygous females. In one of these two families, the affected female is not only blind in one eye but reportedly had supernumerary central incisors (mesiodens) removed. This constitutes the most severe ocular and dental expression of this gene in heterozygous females yet reported.

Original languageEnglish
Pages (from-to)30-35
Number of pages6
JournalClinical Genetics
Volume26
Issue number1
DOIs
Publication statusPublished - Jul 1984
Externally publishedYes

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