Frontometaphyseal dysplasia in a 3 5/12 year-old girl and in the „unaffected mother”

Ivo Marik¹, K Kozlowski²

Summary
We report a girl with fromtometaphyseal dysplasia in whom the first phenotypic abnormality noted at the age of 3 months was metopic suture torus. At the end of the first year of life knock knee deformity and torsion of the legs was noted and this progressed in spite of orthotic treatment. The diagnosis of frontometaphyseal dysplasia was established at the age of 3 years 5 months. Family studies revealed that the mother, supposed to be normal was also affected. Previously unreported clinical manifestations and radiographic findings are documented to further delineate and expand the spectrum of the disorder.

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