Abstract. A genetic skeletal dysplasia with dwarfism, scoliosis and multiple skeletal defects was observed in two sisters. Only fine cases with similar features have been reported in the literature. A syndrome presenting with dwarfism, spondylometaphyseal abnormalities and advanced bone age was reported by Neimann and colleagues in 1964 [TI] and by Desbuquois and colleagues in 1966 [2]. Other cases with similar features were described by Piussan and colleagues [3], who distinguished this condition from Larsen's Syndrome. We report two new observations of this rare disease.
Chondrodystrophic dwarfism and multiple malformations in two sisters.
PEDROTTI, LUISELLA;
1988-01-01
Abstract
Abstract. A genetic skeletal dysplasia with dwarfism, scoliosis and multiple skeletal defects was observed in two sisters. Only fine cases with similar features have been reported in the literature. A syndrome presenting with dwarfism, spondylometaphyseal abnormalities and advanced bone age was reported by Neimann and colleagues in 1964 [TI] and by Desbuquois and colleagues in 1966 [2]. Other cases with similar features were described by Piussan and colleagues [3], who distinguished this condition from Larsen's Syndrome. We report two new observations of this rare disease.File in questo prodotto:
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