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Klin Padiatr. 1986 Sep-Oct;198(5):425-8.

[A familial brain malformation syndrome with symptomatic hypernatremia].

[Article in German]


A familial cerebral malformation combined with chronic hypernatremia is reported. We found three children of a Moroccan family with microcephaly and hypoplasia of the frontal brain. The frontal parts of the lateral ventricles were absent. Two of the children had a defect of the midline structures with fusion of the lateral ventricles similar to holoprosencephaly. Further clinical symptoms were generalized spasticity, delay of mental development and hypodipsia.

[PubMed - indexed for MEDLINE]
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