Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome
نویسندگان
چکیده
BACKGROUND 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. CASE PRESENTATION 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). CONCLUSION 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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INTRODUCTION Hay Wells syndome, also known as ankyloblepharon–ectodermal dysplasia–clefting (AEC) syndrome, is one of the ectodermal dysplasia syndromes. It is an autosomal dominant disorder characterized by findings of ectodermal dyplasia including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip-palate (1). It was first described by Hay and Wells in 7 in...
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