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Acromesomelic dwarfism in a child with an interesting family history

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Abstract

Acromesomelic dwarfism is a rare skeletal disorder characterized by recessive autosomal transmission. A case is desribed in a boy 21/2 years old whose relatives (in a large number) showed a peculiar aspect of the upper extremities, and whose two grandparents were second cousins. Early diagnosis is important because it makes it possible to advise the parents with regard to the infant's prospects and the genetic implication.

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Borrelli, P., Fasanelli, S. & Marini, R. Acromesomelic dwarfism in a child with an interesting family history. Pediatr Radiol 13, 165–168 (1983). https://doi.org/10.1007/BF01624409

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  • DOI: https://doi.org/10.1007/BF01624409

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