Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
Vol. 21, No. 1, 2011, pp. 121-125
Bioline Code: pe11022
Full paper language: English
Document type: Case Report
Document available free of charge
Iranian Journal of Pediatrics, Vol. 21, No. 1, 2011, pp. 121-125
© Copyright 2010 Iran Journal of Pediatrics.
Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome|
Rachisan, Andreea Liana; Cainap, Simona; Andreica, Mariana & Miu, Nicolae
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.
Ectodermal Dysplasia ; Cleft Lip and/or Palate ; Ankyloblepharon ; Mental Retardation
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