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RESEARCH PRODUCT
Oculoectodermal syndrome: Report of a new case with a broad clinical spectrum
Rüştü Fikret AkataJulia C. SchröderRudolf HappleUte MoogDeniz AslanOliver Bartschsubject
Malemusculoskeletal diseasescongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyAplasia cutis congenitaHypopigmented skin lesionsEctodermal DysplasiaOculoectodermal syndromeGeneticsmedicineHumansCystGenetics (clinical)Dermoid CystSkinHyperkeratotic papuleHypopigmentationSystematized epidermal nevusbusiness.industryEpibulbar dermoidsBrainmedicine.diseaseMagnetic Resonance ImagingDermatologyEnlarged cisterna magnaPhenotypeChild Preschoolmedicine.symptombusinessdescription
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. (c) 2014 Wiley Periodicals, Inc.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2014-05-09 | American Journal of Medical Genetics Part A |