title: Hypothalamo-pituitary insufficiency associated with ectrodactyly-ectodermal dysplasia-clefting syndrome.
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.
authors.affiliation: Department of Pediatric Endocrinology, Sisli Etfal Education and Research Hospital, İstanbul, Turkey. nihalhatipoglu@yahoo.com
authors.forename: Nihal
authors.initials: N
authors.lastname: Hatipoğlu
authors.forename: Selim
authors.initials: S
authors.lastname: Kurtoğlu
authors.forename: Derya
authors.initials: D
authors.lastname: Büyükayhan
authors.forename: Mustafa
authors.initials: M
authors.lastname: Akçakuş
mesh_terms: D002971:Cleft Lip / Q000150:complications* / Q000175:diagnosis; D002972:Cleft Palate / Q000150:complications* / Q000175:diagnosis; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007006:Hypogonadism / Q000150:complications; D007018:Hypopituitarism / Q000150:complications*; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013577:Syndrome