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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.
AuthorsNihal Hatipoğlu, Selim Kurtoğlu, Derya Büyükayhan, Mustafa Akçakuş
JournalJournal of clinical research in pediatric endocrinology (J Clin Res Pediatr Endocrinol) Vol. 1 Issue 5 Pg. 252-5 ( 2009) ISSN: 1308-5735 [Electronic] Turkey
PMID21274304 (Publication Type: Case Reports, Journal Article)
Topics
  • Cleft Lip (complications, diagnosis)
  • Cleft Palate (complications, diagnosis)
  • Ectodermal Dysplasia (complications, diagnosis)
  • Humans
  • Hypogonadism (complications)
  • Hypopituitarism (complications)
  • Infant, Newborn
  • Male
  • Phenotype
  • Syndrome

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