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GAPO Syndrome: A Report of Two Siblings and a Review of Literature
Author(s) -
Nanda Arti,
AlAteeqi Wafa A.,
AlKhawari Mona A.,
Alsaleh Qasem A.,
Anim Jeoram T.
Publication year - 2010
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2010.01100.x
Subject(s) - ectodermal dysplasia , medicine , growth retardation , dermatology , disease , dysplasia , congenital disorder , atrophy , pathology , pediatrics , genetics , surgery , biology , pregnancy
Growth retardation, alopecia, pseudoanodontia, optic atrophy (GAPO) syndrome is a rare autosomal recessive disorder. The molecular nature of the disease is not fully understood and is considered to be one of the ectodermal dysplasia defects. In this report, we describe clinical, histologic, and ultrastructural features in two siblings born to consanguineous parents with a brief review of the literature.