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

作者：Shawky R M^*; Elsayed S M; Sadik D I; Gad S; Seifeldin N S

来源：Genetic Counseling, 2010, 21(2): 215-220.

• EEC syndrome
• Adipsic hypernatremia
• Ectrodactyly
• Ectodermal dysplasia
• Cleft lip and cleft palate

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.

• 出版日期2010