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Recessive spondylocostal dysostosis: two new cases.

Abstract

Two sisters with spondylocastal dysostosis are presented. Clinical findings are: short neck, short trunk, decreased upper to lower segment ratio, vertebral and costal malformations and normal intelligence. Both the clinical aspects and the family history are suggestive of the autosomal recessive form of the disease.

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  • Authors

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    Source

    Clinical genetics 13:3 1978 Mar pg 289-94

    MeSH

    Adolescent
    Bone Diseases, Developmental
    Child
    Female
    Genes, Recessive
    Humans
    Ossification, Heterotopic
    Radiography
    Ribs
    Spinal Diseases
    Spine

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    416928

    Citation

    Silengo, M C., et al. "Recessive Spondylocostal Dysostosis: Two New Cases." Clinical Genetics, vol. 13, no. 3, 1978, pp. 289-94.
    Silengo MC, Cavallaro S, Franceschini P. Recessive spondylocostal dysostosis: two new cases. Clin Genet. 1978;13(3):289-94.
    Silengo, M. C., Cavallaro, S., & Franceschini, P. (1978). Recessive spondylocostal dysostosis: two new cases. Clinical Genetics, 13(3), pp. 289-94.
    Silengo MC, Cavallaro S, Franceschini P. Recessive Spondylocostal Dysostosis: Two New Cases. Clin Genet. 1978;13(3):289-94. PubMed PMID: 416928.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Recessive spondylocostal dysostosis: two new cases. AU - Silengo,M C, AU - Cavallaro,S, AU - Franceschini,P, PY - 1978/3/1/pubmed PY - 1978/3/1/medline PY - 1978/3/1/entrez SP - 289 EP - 94 JF - Clinical genetics JO - Clin. Genet. VL - 13 IS - 3 N2 - Two sisters with spondylocastal dysostosis are presented. Clinical findings are: short neck, short trunk, decreased upper to lower segment ratio, vertebral and costal malformations and normal intelligence. Both the clinical aspects and the family history are suggestive of the autosomal recessive form of the disease. SN - 0009-9163 UR - https://wwww.unboundmedicine.com/medline/citation/416928/Recessive_spondylocostal_dysostosis:_two_new_cases_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1978&volume=13&issue=3&spage=289 DB - PRIME DP - Unbound Medicine ER -