ABSTRACT

We report a female infant with facial dysmorphism, ectrodactyly, holoprosen-cephaly, and associated hypernatremia. A 7-month-old female infant with cleft lip and palate, and ectrodactyly was admitted to our hospital with recurrent hypernatremic dehydration. Magnetic resonance imaging revealed holoprosen-cephaly. Plasma osmolality was increased whereas urinary osmolality was dec-reased. Serum ADH level was low. A water deprivation test revealed diabetes insipidus. By presenting this case,we would like to point out that midline facial defects may be associated with cerebral malformations and diabetes insipidus must always be kept in mind as a co-presenting condition