Search results for "Epibulbar dermoids"

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Oculoectodermal syndrome: Report of a new case with a broad clinical spectrum

2014

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, an…

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.symptombusinessAmerican Journal of Medical Genetics Part A
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