Article
Oculoectodermal syndrome: report of a new case with a broad clinical spectrum.
American journal of medical genetics. Part A - 1 Nov 2014
Aslan Deniz, Akata Rustu Fikret, Schröder Julia, Happle Rudolf, Moog Ute, Bartsch Oliver
Abstract excerpt
Oculoectodermal syndrome (OMIM 600268) is rare and characterized by aplasia cutis congenita, epibulbar dermoids, and other abnormalities. We report herein on a newly recognized patient with oculoectodermal syndrome, which is the 19th reported patient with OES. The boy aged six years demonstrated a broad clinical spectrum of this condition, including aplasia cutis congenita, epibulbar dermoids, hyperkeratotic...
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