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[Sex-linked inheritance in fronto-metaphyseal dysplasia]
Journal De Genetique Humaine
|December 1, 1985
Insights
Fronto-metaphyseal dysplasia, a rare genetic disorder, shows X-linked recessive inheritance. This family study confirms severe effects in males and variable expression in female carriers.
Area of Science:
- Genetics
- Pediatrics
- Skeletal Dysplasias
Background:
- Fronto-metaphyseal dysplasia (FMD) is a rare skeletal dysplasia.
- Genetic inheritance patterns are crucial for understanding and managing rare diseases.
Abstract:
The author reports a family study of fronto-metaphyseal dysplasia in a 2 months-old child, in his mother and maternal grand-mother. The child is the more severely affected, while the mother and the grand-mother have less severe manifestations of the syndrome. This evidence permits to confirm the X-linked recessive inheritance of the disease, with severe manifestations in males and variable expression in female carriers.