A rare genetic immuno-osseous dysplasia disorder with characteristics of pre and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyse

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syndrome de Roifman

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spinal epiphyseal dysplasia

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dysplasie spondyloépiphysaire

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A rare familial skeletal dysplasia with characteristics of multiple epiphyseal dysplasia with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family. A mutation in PTHR1 gene is responsible for this synd

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syndrome d'Eiken

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Multiple epiphyseal dysplasia with severe proximal femoral dysplasia

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dysplasie épiphysaire multiple avec dysplasie fémorale sévère

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Date index: 2022-11-11