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

被引：0

作者：

Trabzon, Gul ^{[1
]}

Siraz, Ulku Gul ^{[2
]}

Tatli, Zeynep Uzan ^{[3
]}

Hepokur, Merve Nur ^{[4
]}

Akin, Leyla ^{[5
]}

Hatipoglu, Nihal ^{[2
]}

Gunes, Tamer ^{[6
]}

机构：

[1] Mustafa Kemal Univ, Med Fac, Dept Pediat Endocrinol, Hatay, Turkiye

[2] Erciyes Univ, Med Fac, Dept Pediat Endocrinol, Kayseri, Turkiye

[3] Van Training & Res Hosp, Dept Pediat Endocrinol, Van, Turkiye

[4] Medeniyet Univ, Med Fac, Dept Pediat Endocrinol, Istanbul, Turkiye

[5] Ondokuz Mayis Univ, Med Fac, Dept Pediat Endocrinol, Samsun, Turkiye

[6] Erciyes Univ, Med Fac, Dept Pediat Nephrol, Kayseri, Turkiye

来源：

TRENDS IN PEDIATRICS | 2023年 / 4卷 / 01期

关键词：

Ectrodactyly; ectodermal dysplasia cleft lip; lobstarclow; adipsic hypernatremia; EEC-SYNDROME; LIP-PALATE; DEFICIENCY; MUTATION; TP63;

D O I：

10.59213/TP.2023.78942

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：55 / 60

页数：6

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