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Ectodermal dysplasia showing the clinical overlap between Hay Wells syndrome and Bowen Armstrong syndrome
Iranian Journal of Pediatrics. 2011; 21 (1): 121-125
en Inglés | IMEMR | ID: emr-109569
ABSTRACT
Several clinical entities combine ectodermal dysplasia [ED] and cleft lip and/or palate [CL/P]. These disorders have been recognized with a narrow phenotypic spectrum and very similar clinical features. We report a case with a clinical diagnosis of Hay Wells syndrome [ankyloblepharon, ED and CL/P], who is a descendent of a mother with Bowen Armstrong syndrome [ED, CL/P, mental retardation]. Due to the clinical similarities, we suggest that Hay Wells syndrome and Bowen Armstrong syndrome may be the same clinical entity with variable manifestations. This case highlights the difficulties in trying to classify the ED syndromes on clinical features
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Índice: IMEMR (Mediterraneo Oriental) Asunto principal: Anomalías del Ojo / Labio Leporino / Fisura del Paladar / Párpados / Discapacidad Intelectual Tipo de estudio: Informe de Casos Límite: Humanos / Masculino Idioma: Inglés Revista: Iran. J. Pediatr. Año: 2011

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Índice: IMEMR (Mediterraneo Oriental) Asunto principal: Anomalías del Ojo / Labio Leporino / Fisura del Paladar / Párpados / Discapacidad Intelectual Tipo de estudio: Informe de Casos Límite: Humanos / Masculino Idioma: Inglés Revista: Iran. J. Pediatr. Año: 2011