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campomelic dysplasia/hearing loss

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Camptomelic dysplasia with sex reversal.

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Camptomelic dysplasia is a disorder of the newborn characterized by congenital bowing and angulation of long bones together with other skeletal and extraskeletal defects. The affected newborn had dysmorphic features with bowing of the legs and bilateral talipes equinovarus. Radiology showed marked

Osteogenesis Imperfecta

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Osteogenesis imperfecta (OI, or Brittle Bone Disease) is a clinically and genetically heterogeneous group of heritable disorders of connective tissue. The incidence of forms recognizable at birth is 1:10-20,000. The hallmark feature of OI is bone fragility, with susceptibility to fracture from
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