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A patient with hypoparathyroidism, dysmorphic features and mental retardation
1Department of Internal Medicine, Hadassah University Hospital - Ein Karem, Jerusalem 91120, Israel.
European Journal of Medical Research
|February 22, 1996
Insights
Congenital hypoparathyroidism, seizures, and developmental delays are seen in children. This report details a unique adult case with these conditions, plus micrognathia, deep-set eyes, and pes cavus.
Area of Science:
- Medical Genetics
- Endocrinology
- Neurology
Background:
- Congenital hypoparathyroidism, seizures, dysmorphic features, and mental retardation are recognized syndromes in pediatric populations.
- Previous literature primarily documents these combined conditions in children.
Abstract:
There have been various reports in the medical literature concerning children with syndromes of congenital hypoparathyroidism, seizures, dysmorphic features and mental retardation. We describe a patient with hypoparathyroidism, mental retardation, micrognathia, deep-set eyes and pes cavus in a 31-year-old man. This combination of abnormalities in an adult is unique.