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

Trabzon G., Gül Şiraz Ü., Uzan Tatlı Z., Hepokur M. N., Akın L., Hatipoğlu N., ...Daha Fazla

Trends in Pediatrics, cilt.4, sa.1, ss.55-60, 2023 (ESCI) identifier identifier

  • Yayın Türü: Makale / Vaka Takdimi
  • Cilt numarası: 4 Sayı: 1
  • Basım Tarihi: 2023
  • Doi Numarası: 10.59213/tp.2023.78942
  • Dergi Adı: Trends in Pediatrics
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.55-60
  • Anahtar Kelimeler: Ectrodactyly, ectodermal dysplasia cleft lip, lobstarclow, adipsic hypernatremia
  • Erciyes Üniversitesi Adresli: Evet

Özet

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.