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A new syndrome with distinct facial and auricular malformations and dominant inheritance.
Am J Med Genet. 1989 Feb; 32(2):184-6.AJ

Abstract

We report on a mother and son with high forehead; elongated and flattened face; arched, sparse eyebrows; short palpebral fissures; telecanthus; long nose and hypoplastic nostrils; long philtrum; microstomia; high, narrow palate; nasal speech; chin dimples; and a highly unusual bilateral auricular malformation. Intelligence and hearing are normal, and there is no "whistling" face or deviation of fingers. Although resembling in some ways the Freeman-Sheldon syndrome, this phenotype most likely represents a new malformation syndrome, either autosomal dominant or X-linked dominant.

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  • Publisher Full Text

    • Authors+Show Affiliations

    Simosa V
    Centro Nacional de Genética Humana y Experimental, Universidad Central de Venezuela, Caracas.
    Penchaszadeh VB
    No affiliation info available
    Bustos T
    No affiliation info available

    MeSH

    Abnormalities, MultipleAdultChildChromosome AberrationsChromosome DisordersEar, ExternalFacial BonesFemaleFollow-Up StudiesGenes, DominantHumansMalePhenotypeSyndrome

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    2929657

    Citation

    Simosa, V, et al. "A New Syndrome With Distinct Facial and Auricular Malformations and Dominant Inheritance." American Journal of Medical Genetics, vol. 32, no. 2, 1989, pp. 184-6.
    Simosa V, Penchaszadeh VB, Bustos T. A new syndrome with distinct facial and auricular malformations and dominant inheritance. Am J Med Genet. 1989;32(2):184-6.
    Simosa, V., Penchaszadeh, V. B., & Bustos, T. (1989). A new syndrome with distinct facial and auricular malformations and dominant inheritance. American Journal of Medical Genetics, 32(2), 184-6.
    Simosa V, Penchaszadeh VB, Bustos T. A New Syndrome With Distinct Facial and Auricular Malformations and Dominant Inheritance. Am J Med Genet. 1989;32(2):184-6. PubMed PMID: 2929657.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - A new syndrome with distinct facial and auricular malformations and dominant inheritance. AU - Simosa,V, AU - Penchaszadeh,V B, AU - Bustos,T, PY - 1989/2/1/pubmed PY - 1989/2/1/medline PY - 1989/2/1/entrez SP - 184 EP - 6 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 32 IS - 2 N2 - We report on a mother and son with high forehead; elongated and flattened face; arched, sparse eyebrows; short palpebral fissures; telecanthus; long nose and hypoplastic nostrils; long philtrum; microstomia; high, narrow palate; nasal speech; chin dimples; and a highly unusual bilateral auricular malformation. Intelligence and hearing are normal, and there is no "whistling" face or deviation of fingers. Although resembling in some ways the Freeman-Sheldon syndrome, this phenotype most likely represents a new malformation syndrome, either autosomal dominant or X-linked dominant. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2929657/A_new_syndrome_with_distinct_facial_and_auricular_malformations_and_dominant_inheritance_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1989&volume=32&issue=2&spage=184 DB - PRIME DP - Unbound Medicine ER -