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Nasopalpebral lipoma‐coloboma syndrome
Author(s) -
Akarsu A. N.,
Sayli B. S.
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03106.x
Subject(s) - coloboma , hypoplasia , medicine , anatomy , dysplasia , lipoma , microphthalmia , biology , pathology , genetics , gene
An autosomal dominant dysplasia‐malformation syndrome affecting seven individuals in one family is reported. The components of the syndrome include congenital nasopalpebral lipoma, telecanthus, and bilateral colobomas of upper and lower lids without midface hypoplasia. It appears to be the second recorded example resulting from an autosomal dominant gene fully penetrant in both sexes.