ADIPSIC HYPERNATREMIA AND BILATERAL RENAL STONES IN A CHILD WITH-ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP-PALATE (EEC) SYNDROME

被引：0

作者：

Shawky, R. M. ^{[1
]}

Elsayed, S. M. ^{[1
]}

Sadik, D. I. ^{[2
]}

Gad, S. ^{[1
]}

Seifeldin, N. S. ^{[3
]}

机构：

[1] Ain Shams Univ, Fac Med, Dept Pediat, Cairo, Egypt

[2] Ain Shams Univ, Ctr Med Genet, Cairo, Egypt

[3] Ain Shams Univ, Dept Dermatol, Fac Med, Cairo, Egypt

来源：

GENETIC COUNSELING | 2010年 / 21卷 / 02期

关键词：

EEC syndrome; Adipsic hypernatremia; Ectrodactyly; Ectodermal dysplasia; Cleft lip and cleft palate; P63; GENE-MUTATIONS; VASOPRESSIN; HAND;

D O I：

暂无

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Adipsic hypernatremia and bilateral renal stones in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate (EEC) syndrome: EEC syndrome an autosomal dominant disorder with variable expression and cardinal signs of ectrodactyly, ectodermal dysplasia, and orofacial clefts. In this report, we describe a patient with EEC syndrome, adipsic hypernatremia without brain anomalies, and bilateral renal stones, two manifestations that were not reported before.

引用

页码：215 / 220

页数：6

共 50 条

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