Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis.
Am J Med Genet A
; 143A(24): 2959-62, 2007 Dec 15.
Article
en En
| MEDLINE
| ID: mdl-17963257
ABSTRACT
Oculoectodermal syndrome (OES) is characterized by epibulbar dermoids, aplasia cutis congenita, and other abnormalities. Here, we report 2 new cases, review 13 previous cases, and propose that OES may be a mild variant of encephalocraniocutaneous lipomatosis (ECCL), differing primarily in its lack of intracranial pathology.
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Colección:
01-internacional
Asunto principal:
Anomalías Cutáneas
/
Anomalías Múltiples
/
Anomalías del Ojo
/
Síndromes Neurocutáneos
/
Lipomatosis
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2007
Tipo del documento:
Article
País de afiliación:
Estados Unidos