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Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.

Abstract

Microcephalic and osteodysplastic primordial dwarfism (MODP) types I, II, and III were defined by Majewski et al. in 1982. This group of syndromes was characterized by intrauterine growth retardation, microcephaly, and typical facial appearance with prominent nose and micrognathia. Type II was clearly different, both clinically and radiologically, whereas types I and III shared manifestations. Distinction between the latter two was established on the basis of subtle radiological differences. In 1967, Taybi and Linder described another syndrome with microcephalic congenital dwarfism. There is a consensus that MODP type I and III and Taybi-Linder cephaloskeletal dysplasia represent the same disorder. We report on four patients with MODP type Taybi-Linder syndromes, two of whom were born to unrelated but consanguineous parents, while the other two were sibs. Second-trimester prenatal detection by ultrasonography was possible in one case. Consanguinity in two cases and recurrence among sibs are consistent with autosomal recessive inheritance.

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  • Authors+Show Affiliations

    ,

    Department of Medical Genetics and Foetopathology, Hôpital d'Enfants de la Timone, Marseilles, France.

    , , , , ,

    Source

    American journal of medical genetics 80:1 1998 Oct 30 pg 16-24

    MeSH

    Abnormalities, Multiple
    Dwarfism
    Female
    Humans
    Infant, Newborn
    Male
    Microcephaly
    Osteochondrodysplasias
    Radiography

    Pub Type(s)

    Case Reports
    Journal Article
    Review

    Language

    eng

    PubMed ID

    9800907

    Citation

    Sigaudy, S, et al. "Microcephalic Osteodysplastic Primordial Dwarfism Taybi-Linder Type: Report of Four Cases and Review of the Literature." American Journal of Medical Genetics, vol. 80, no. 1, 1998, pp. 16-24.
    Sigaudy S, Toutain A, Moncla A, et al. Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature. Am J Med Genet. 1998;80(1):16-24.
    Sigaudy, S., Toutain, A., Moncla, A., Fredouille, C., Bourlière, B., Ayme, S., & Philip, N. (1998). Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature. American Journal of Medical Genetics, 80(1), pp. 16-24.
    Sigaudy S, et al. Microcephalic Osteodysplastic Primordial Dwarfism Taybi-Linder Type: Report of Four Cases and Review of the Literature. Am J Med Genet. 1998 Oct 30;80(1):16-24. PubMed PMID: 9800907.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature. AU - Sigaudy,S, AU - Toutain,A, AU - Moncla,A, AU - Fredouille,C, AU - Bourlière,B, AU - Ayme,S, AU - Philip,N, PY - 1998/11/4/pubmed PY - 2000/6/20/medline PY - 1998/11/4/entrez SP - 16 EP - 24 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 80 IS - 1 N2 - Microcephalic and osteodysplastic primordial dwarfism (MODP) types I, II, and III were defined by Majewski et al. in 1982. This group of syndromes was characterized by intrauterine growth retardation, microcephaly, and typical facial appearance with prominent nose and micrognathia. Type II was clearly different, both clinically and radiologically, whereas types I and III shared manifestations. Distinction between the latter two was established on the basis of subtle radiological differences. In 1967, Taybi and Linder described another syndrome with microcephalic congenital dwarfism. There is a consensus that MODP type I and III and Taybi-Linder cephaloskeletal dysplasia represent the same disorder. We report on four patients with MODP type Taybi-Linder syndromes, two of whom were born to unrelated but consanguineous parents, while the other two were sibs. Second-trimester prenatal detection by ultrasonography was possible in one case. Consanguinity in two cases and recurrence among sibs are consistent with autosomal recessive inheritance. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/9800907/Microcephalic_osteodysplastic_primordial_dwarfism_Taybi_Linder_type:_report_of_four_cases_and_review_of_the_literature_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1998&volume=80&issue=1&spage=16 DB - PRIME DP - Unbound Medicine ER -