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Pubmed for Handhelds

PUBMED FOR HANDHELDS

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  • Title: Acrodysostosis: autosomal dominant transmission.
    Author: Sheela SR, Perti A, Thomas G.
    Journal: Indian Pediatr; 2005 Aug; 42(8):822-6. PubMed ID: 16141486.
    Abstract:
    We describe a two and half year old male child with acrodysostosis, presenting with nasal hypoplasia, peripheral dysostosis (gross shortening of hands and feet), cone-shaped epiphysis, advanced bone age, and mental retardation. He and his mother also had bilateral first ray hyperplasia of the feet thereby expressing the autosomal dominant inheritance pattern.
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