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.
Shawky
R M
RM
Pediatrics Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt. shawkyrabah@yahoo.com
Elsayed
S M
SM
Sadik
D I
DI
Gad
S
S
Seifeldin
N S
NS
D000015:Abnormalities, Multiple; D002971:Cleft Lip; D002972:Cleft Palate; D004476:Ectodermal Dysplasia; D006801:Humans; D006955:Hypernatremia; D007223:Infant; D007669:Kidney Calculi; D008297:Male; D013577:Syndrome