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.

Keywords: Ectrodactyly, ectodermal dysplasia cleft lip, lobstarclow, adipsic hypernatremia

Copyright and license

Copyright © 2023 The author(s). This is an open-access article published by Aydın Pediatric Society under the terms of the Creative Commons Attribution License (CC BY) which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.

How to cite

1.
Trabzon G, Gül Şiraz Ü, Uzan Tatlı Z, Hepokur MN, Akın L, Hatipoğlu N, et al. Four cases with ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome: Clinical evaluation and management and literature review. Trends in Pediatrics. 2023;4(1):55-60. https://doi.org/10.59213/TP.2023.78942

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