Tags

Type your tag names separated by a space and hit enter

Recessive form of Freeman-Sheldon's syndrome or 'whistling face',.
J Med Genet 1977; 14(2):139-41JM

Abstract

Freeman-Sheldon's syndrome is a rare genetic disease inherited as an autosomal dominant trait in some families but showing sporadic appearance in the majority of the reported cases. In the present paper we report a family having two affected children from normal consanguineous parents suggesting that Freeman-Sheldon's syndrome may be heterogeneous from the genetic point of view.

Links

  • PMC Free PDF
    • Publisher Full Text
    ncbi.nlm.nih.gov
    jmg.bmj.com

    Authors

    Alves AF
    No affiliation info available
    Azevedo ES
    No affiliation info available

    MeSH

    Abnormalities, MultipleBlepharoptosisChildConsanguinityCraniofacial DysostosisFemaleGenes, RecessiveHumansMaleMouth AbnormalitiesPedigreeSyndrome

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    856233

    Citation

    Alves, A F., and E S. Azevedo. "Recessive Form of Freeman-Sheldon's Syndrome or 'whistling Face',." Journal of Medical Genetics, vol. 14, no. 2, 1977, pp. 139-41.
    Alves AF, Azevedo ES. Recessive form of Freeman-Sheldon's syndrome or 'whistling face',. J Med Genet. 1977;14(2):139-41.
    Alves, A. F., & Azevedo, E. S. (1977). Recessive form of Freeman-Sheldon's syndrome or 'whistling face',. Journal of Medical Genetics, 14(2), pp. 139-41.
    Alves AF, Azevedo ES. Recessive Form of Freeman-Sheldon's Syndrome or 'whistling Face',. J Med Genet. 1977;14(2):139-41. PubMed PMID: 856233.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Recessive form of Freeman-Sheldon's syndrome or 'whistling face',. AU - Alves,A F, AU - Azevedo,E S, PY - 1977/4/1/pubmed PY - 1977/4/1/medline PY - 1977/4/1/entrez SP - 139 EP - 41 JF - Journal of medical genetics JO - J. Med. Genet. VL - 14 IS - 2 N2 - Freeman-Sheldon's syndrome is a rare genetic disease inherited as an autosomal dominant trait in some families but showing sporadic appearance in the majority of the reported cases. In the present paper we report a family having two affected children from normal consanguineous parents suggesting that Freeman-Sheldon's syndrome may be heterogeneous from the genetic point of view. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/856233/Recessive_form_of_Freeman_Sheldon's_syndrome_or_'whistling_face'_ L2 - http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=856233 DB - PRIME DP - Unbound Medicine ER -