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Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature.

Abstract

We report two unrelated infants with cephaloskeletal dysplasia or Taybi-Linder syndrome, also referred to as osteodysplastic primordial dwarfism Type III. They presented with peculiar facial features, microcephaly and skeletal and cerebral abnormalities documented radiographically and with cranial MRI and/or CT. Some dissimilarities were observed in the skeletal findings between the two patients, most likely reflecting phenotypic variability within the same disorder. Some radiographic features were shown to evolve with time in both patients. Also of interest is the unusually long survival of these patients, more than 4 years in the first and of over 6 years in the second.

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  • Authors+Show Affiliations

    ,

    Department of Radiology, A. Meyer Children's Hospital, Florence, Italy.

    , , ,

    Source

    Pediatric radiology 30:9 2000 Sep pg 644-52

    MeSH

    Age Factors
    Bone and Bones
    Child, Preschool
    Dwarfism
    Female
    Humans
    Infant
    Infant, Newborn
    Magnetic Resonance Imaging
    Male
    Prognosis
    Skull
    Syndrome
    Tomography, X-Ray Computed

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    11009306

    Citation

    Vichi, G F., et al. "Cephaloskeletal Dysplasia (Taybi-Linder Syndrome: Osteodysplastic Primordial Dwarfism Type III): Report of Two Cases and Review of the Literature." Pediatric Radiology, vol. 30, no. 9, 2000, pp. 644-52.
    Vichi GF, Currarino G, Wasserman RL, et al. Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature. Pediatr Radiol. 2000;30(9):644-52.
    Vichi, G. F., Currarino, G., Wasserman, R. L., Duvina, P. L., & Filippi, L. (2000). Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature. Pediatric Radiology, 30(9), pp. 644-52.
    Vichi GF, et al. Cephaloskeletal Dysplasia (Taybi-Linder Syndrome: Osteodysplastic Primordial Dwarfism Type III): Report of Two Cases and Review of the Literature. Pediatr Radiol. 2000;30(9):644-52. PubMed PMID: 11009306.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature. AU - Vichi,G F, AU - Currarino,G, AU - Wasserman,R L, AU - Duvina,P L, AU - Filippi,L, PY - 2000/9/29/pubmed PY - 2001/2/28/medline PY - 2000/9/29/entrez SP - 644 EP - 52 JF - Pediatric radiology JO - Pediatr Radiol VL - 30 IS - 9 N2 - We report two unrelated infants with cephaloskeletal dysplasia or Taybi-Linder syndrome, also referred to as osteodysplastic primordial dwarfism Type III. They presented with peculiar facial features, microcephaly and skeletal and cerebral abnormalities documented radiographically and with cranial MRI and/or CT. Some dissimilarities were observed in the skeletal findings between the two patients, most likely reflecting phenotypic variability within the same disorder. Some radiographic features were shown to evolve with time in both patients. Also of interest is the unusually long survival of these patients, more than 4 years in the first and of over 6 years in the second. SN - 0301-0449 UR - https://www.unboundmedicine.com/medline/citation/11009306/Cephaloskeletal_dysplasia__Taybi_Linder_syndrome:_osteodysplastic_primordial_dwarfism_type_III_:_report_of_two_cases_and_review_of_the_literature_ L2 - https://dx.doi.org/10.1007/s002470000264 DB - PRIME DP - Unbound Medicine ER -