Four cases with ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome: Clinical evaluation and management and literature review

TRABZON G., GÜL ŞİRAZ Ü., Tatlı Z. U., Hepokur M. N., Akın L., HATİPOĞLU N., ...More

Trends in Pediatrics, vol.4, no.1, pp.55-60, 2023 (Scopus) identifier

  • Publication Type: Article / Article
  • Volume: 4 Issue: 1
  • Publication Date: 2023
  • Doi Number: 10.59213/tp.2023.78942
  • Journal Name: Trends in Pediatrics
  • Journal Indexes: Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.55-60
  • Keywords: adipsic hypernatremia, ectodermal dysplasia cleft lip, Ectrodactyly, lobstarclow
  • Hatay Mustafa Kemal University Affiliated: Yes

Abstract

A rare syndrome is ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome, which may present with lobster claw deformity. The main clinical characteristics indicate involvement of ectodermal and mesodermal tissues, including mesoaxial and longitudinal defect of distal extremity, cleft lip and palate, and developmental defects of ectoderm derives. Renal anomalies and hormonal disorders may be seen in EEC patients. This article discusses endocrine problems in 4 EEC patients diagnosed based on clinical characteristics.