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Autosomal recessive form of whistling face syndrome in sibs.
Am J Med Genet. 1989 Aug; 33(4):542-4.AJ

Abstract

Two sibs with the whistling face syndrome, born to unaffected parents, are presented. They had the full facial and limb manifestations typical of this disorder, for which there is evidence of autosomal dominant inheritance. The existence of an autosomal recessive form of this syndrome has been suspected previously on the basis of a limited number of observations. Our study substantiates genetic heterogeneity of this condition and suggests that the autosomal recessive form could be even less rare than is generally considered.

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  • Publisher Full Text

    • Authors+Show Affiliations

    Dallapiccola B
    Department of Public Health and Cell Biology, IInd University of Rome, Italy.
    Giannotti A
    No affiliation info available
    Lembo A
    No affiliation info available
    Saguì L
    No affiliation info available

    MeSH

    Abnormalities, MultipleChild, PreschoolCraniofacial DysostosisFacial ExpressionFemaleHand Deformities, CongenitalHumansInfant, NewbornLimb Deformities, CongenitalMaleSyndrome

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    2596515

    Citation

    Dallapiccola, B, et al. "Autosomal Recessive Form of Whistling Face Syndrome in Sibs." American Journal of Medical Genetics, vol. 33, no. 4, 1989, pp. 542-4.
    Dallapiccola B, Giannotti A, Lembo A, et al. Autosomal recessive form of whistling face syndrome in sibs. Am J Med Genet. 1989;33(4):542-4.
    Dallapiccola, B., Giannotti, A., Lembo, A., & Saguì, L. (1989). Autosomal recessive form of whistling face syndrome in sibs. American Journal of Medical Genetics, 33(4), 542-4.
    Dallapiccola B, et al. Autosomal Recessive Form of Whistling Face Syndrome in Sibs. Am J Med Genet. 1989;33(4):542-4. PubMed PMID: 2596515.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Autosomal recessive form of whistling face syndrome in sibs. AU - Dallapiccola,B, AU - Giannotti,A, AU - Lembo,A, AU - Saguì,L, PY - 1989/8/1/pubmed PY - 1989/8/1/medline PY - 1989/8/1/entrez SP - 542 EP - 4 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 33 IS - 4 N2 - Two sibs with the whistling face syndrome, born to unaffected parents, are presented. They had the full facial and limb manifestations typical of this disorder, for which there is evidence of autosomal dominant inheritance. The existence of an autosomal recessive form of this syndrome has been suspected previously on the basis of a limited number of observations. Our study substantiates genetic heterogeneity of this condition and suggests that the autosomal recessive form could be even less rare than is generally considered. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2596515/Autosomal_recessive_form_of_whistling_face_syndrome_in_sibs_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1989&volume=33&issue=4&spage=542 DB - PRIME DP - Unbound Medicine ER -