Hypothalamo-Pituitary Insufficiency Associated with Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
Journal Title: Journal of Clinical Research in Pediatric Endocrinology - Year 2009, Vol 1, Issue 5
Abstract
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is characterized by ectodermal dysplasia, ectrodactyly and facial clefting with multiple congenital anomalies such as urinary tract anomaly, lacrimal duct obstruction, and hearing loss. This syndrome is a rare disease transmitted by autosomal dominant inheritance with variable penetrance. Clinical expression is variable. In EEC syndrome with midline defect hypothalamo-pituitary endocrinopathy is expected, however hormonal disorders in EEC syndrome have rarely been reported. We present two patients with EEC syndrome associated with hypothalamo-pituitary insufficiency. DOI: 10.4274/jcrpe.v1i5. 252
Authors and Affiliations
Nihal Hatipoğlu, Selim Kurtoğlu, Derya Büyükayhan, Mustafa Akçakuş
Keywords
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