Campomelic dysplasia
Campomelic dysplasia (CMD) is a rare genetic disorder characterized by bowing of the long bones and many other skeletal and extraskeletal features.It is frequently lethal in the neonatal period due to respiratory insufficiency, but the severity of the disease is variable, and some patients survive into adulthood.The name is derived from the Greek roots campo (or campto), meaning bent, and melia, meaning limb. An unusual aspect of the disease is that up to two-thirds of affected 46,XY genotypic males display a range of disorders of sexual development (DSD) and genital ambiguities or may even develop as normal phenotypic females as in complete 46 XY sex reversal. An atypical form of the disease with absence of bowed limbs is called, prosaically, acampomelic campomelic dysplasia (ACD) and is
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Campomelic dysplasia
Campomelic dysplasia (CMD) is a rare genetic disorder characterized by bowing of the long bones and many other skeletal and extraskeletal features.It is frequently lethal in the neonatal period due to respiratory insufficiency, but the severity of the disease is variable, and some patients survive into adulthood.The name is derived from the Greek roots campo (or campto), meaning bent, and melia, meaning limb. An unusual aspect of the disease is that up to two-thirds of affected 46,XY genotypic males display a range of disorders of sexual development (DSD) and genital ambiguities or may even develop as normal phenotypic females as in complete 46 XY sex reversal. An atypical form of the disease with absence of bowed limbs is called, prosaically, acampomelic campomelic dysplasia (ACD) and is
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Campomelic dysplasia (CMD) is ...... surviving the neonatal period.
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Die Kampomele Dysplasie, auch ...... iker Pierre Maroteaux geprägt.
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Décrit pour la première fois e ...... ement le nanisme thanatophore.
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La displasia campomélica es un ...... insuficiencia respiratoria.
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La sindrome camptomelica, a vo ...... fattore antimulleriano (AMH).
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1,005,134,154
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This condition is inherited in an autosomal dominant manner
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DiseasesDB
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D055036
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name
Campomelic dysplasia
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Campomelic dysplasia (CMD) is ...... omelic dysplasia (ACD) and is
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Die Kampomele Dysplasie, auch ...... iker Pierre Maroteaux geprägt.
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Décrit pour la première fois e ...... les individus au caryotype XY.
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La displasia campomélica es un ...... insuficiencia respiratoria.
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La sindrome camptomelica, a vo ...... teristica di questo disordine.
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label
Campomele dysplasie
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Campomelic dysplasia
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Displasia campomélica
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Dysplasie campomélique
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Kampomele Dysplasie
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Sindrome camptomelica
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Campomelic dysplasia
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