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Elevated 1,25‐dihydroxyvitamin D and normocalcaemia in presumed familial Williams syndrome
Author(s) -
Knudtzon J.,
Aksnes L.,
Akslen L. A.,
Aarskog D.
Publication year - 1987
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1987.tb03151.x
Subject(s) - williams syndrome , endocrinology , medicine , genetics , biology , psychiatry , cognition
Two brothers with Williams syndrome without hypercalcaemia are presented. One boy died during the first month of life. His brother also had the typical phenotypic features of the elfin fades. He developed severe microcephaly and cataract and died at the age of 9 years. The skeleton was osteosclerotic at birth, and became generally osteoporotic at the age of 2 years. He had persistently elevated 1,25‐dihydroxyvitamin D levels during the first 2 years of life, in spite of normocalcaemia. At autopsy, microcalcifications were found in the brain and kidneys. The present report underscores the familial occurrence of Williams syndrome of severe degree. Elevated 1, 25‐dihydroxyvitamin D levels without hypercalcaemia have not been reported previously, and may suggest causal heterogeneity of the Williams syndrome.