Dysplazja czołowo-przynasadowa (FMD) u 3,5-letniej dziewczynki i jej „zdrowej” matki

Ivo Marik¹, Kazimierz Kozlowski²

Streszczenie
We report a girl with frontometaphyseal 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 and 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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