| Literature DB >> 25251940 |
Deniz Aslan1, Rustu Fikret Akata, Julia Schröder, Rudolf Happle, Ute Moog, Oliver Bartsch.
Abstract
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 papule, mildly enlarged cisterna magna, and an enlarged fluid space in the quadrigeminal cistern, suggesting a cyst. He also manifested anomalies not reported associated with this disorder, including systematized epidermal nevus following Blaschko's lines, hypopigmented skin lesions, and mild digital anomaly.Entities:
Keywords: Oculoectodermal syndrome; aplasia cutis congenita; digital anomaly; epibulbar dermoid; epidermal nevus; hypopigmented macule
Mesh:
Year: 2014 PMID: 25251940 DOI: 10.1002/ajmg.a.36727
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802