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Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family.
Am J Med Genet. 1987 Oct; 28(2):471-5.AJ

Abstract

We report on 2 brothers with severe manifestations of the whistling-face/windmill-vane-hand syndrome (also called "craniocarpotarsal dystrophy"; Freeman-Sheldon syndrome); they were born to normal, nonconsanguineous parents. Our observations support the theory of causal heterogeneity of this syndrome and suggest existence of an autosomal or X-linked recessive form of this syndrome.

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  • Publisher Full Text

    • Authors+Show Affiliations

    Wang TR
    Department of Pediatrics, National Taiwan University Hospital, College of Medicine, Taipei, Republic of China.
    Lin SJ
    No affiliation info available

    MeSH

    Abnormalities, MultipleChildChild, PreschoolChinaClubfootFaceHand Deformities, CongenitalHumansMaleSyndrome

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    3425620

    Citation

    Wang, T R., and S J. Lin. "Further Evidence for Genetic Heterogeneity of Whistling Face or Freeman-Sheldon Syndrome in a Chinese Family." American Journal of Medical Genetics, vol. 28, no. 2, 1987, pp. 471-5.
    Wang TR, Lin SJ. Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family. Am J Med Genet. 1987;28(2):471-5.
    Wang, T. R., & Lin, S. J. (1987). Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family. American Journal of Medical Genetics, 28(2), 471-5.
    Wang TR, Lin SJ. Further Evidence for Genetic Heterogeneity of Whistling Face or Freeman-Sheldon Syndrome in a Chinese Family. Am J Med Genet. 1987;28(2):471-5. PubMed PMID: 3425620.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family. AU - Wang,T R, AU - Lin,S J, PY - 1987/10/1/pubmed PY - 1987/10/1/medline PY - 1987/10/1/entrez SP - 471 EP - 5 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 28 IS - 2 N2 - We report on 2 brothers with severe manifestations of the whistling-face/windmill-vane-hand syndrome (also called "craniocarpotarsal dystrophy"; Freeman-Sheldon syndrome); they were born to normal, nonconsanguineous parents. Our observations support the theory of causal heterogeneity of this syndrome and suggest existence of an autosomal or X-linked recessive form of this syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3425620/Further_evidence_for_genetic_heterogeneity_of_whistling_face_or_Freeman_Sheldon_syndrome_in_a_Chinese_family_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1987&volume=28&issue=2&spage=471 DB - PRIME DP - Unbound Medicine ER -