Tags

Type your tag names separated by a space and hit enter

Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II.

Abstract

A male infant with "classical" Seckel syndrome and a girl with osteodysplastic primordial dwarfism type II are described. The boy with classical Seckel syndrome had severe brain dysplasia, a finding hitherto unreported in patients with this syndrome. The patient with osteodysplastic dwarfism type II had skeletal abnormalities including lumbar scoliosis, a small and high pelvis, metaphyseal flaring of the distal radii and ulnae, V-shaped metaphyseal flaring of the distal femorae, and short metacarpals and phalanges. The mother of this girl was short, microcephalic, and had disproportionately short forearms and legs. In view of this, dominant inheritance of the disease was suggested.

Links

  • Publisher Full Text
  • Authors+Show Affiliations

    ,

    Department of Pediatrics, Yamaguchi University School of Medicine, Ube, Japan.

    ,

    Source

    MeSH

    Abnormalities, Multiple
    Asian Continental Ancestry Group
    Child
    Dwarfism
    Female
    Gene Expression Regulation
    Genes, Dominant
    Humans
    Infant
    Japan
    Male
    Microcephaly
    Syndrome

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    8358044

    Citation

    Sugio, Y, et al. "Two Japanese Cases With Microcephalic Primordial Dwarfism: Classical Seckel Syndrome and Osteodysplastic Primordial Dwarfism Type II." The Japanese Journal of Human Genetics, vol. 38, no. 2, 1993, pp. 209-17.
    Sugio Y, Tsukahara M, Kajii T. Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II. Jpn J Hum Genet. 1993;38(2):209-17.
    Sugio, Y., Tsukahara, M., & Kajii, T. (1993). Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II. The Japanese Journal of Human Genetics, 38(2), pp. 209-17.
    Sugio Y, Tsukahara M, Kajii T. Two Japanese Cases With Microcephalic Primordial Dwarfism: Classical Seckel Syndrome and Osteodysplastic Primordial Dwarfism Type II. Jpn J Hum Genet. 1993;38(2):209-17. PubMed PMID: 8358044.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II. AU - Sugio,Y, AU - Tsukahara,M, AU - Kajii,T, PY - 1993/6/1/pubmed PY - 1993/6/1/medline PY - 1993/6/1/entrez SP - 209 EP - 17 JF - The Japanese journal of human genetics JO - Jpn. J. Hum. Genet. VL - 38 IS - 2 N2 - A male infant with "classical" Seckel syndrome and a girl with osteodysplastic primordial dwarfism type II are described. The boy with classical Seckel syndrome had severe brain dysplasia, a finding hitherto unreported in patients with this syndrome. The patient with osteodysplastic dwarfism type II had skeletal abnormalities including lumbar scoliosis, a small and high pelvis, metaphyseal flaring of the distal radii and ulnae, V-shaped metaphyseal flaring of the distal femorae, and short metacarpals and phalanges. The mother of this girl was short, microcephalic, and had disproportionately short forearms and legs. In view of this, dominant inheritance of the disease was suggested. SN - 0916-8478 UR - https://www.unboundmedicine.com/medline/citation/8358044/Two_Japanese_cases_with_microcephalic_primordial_dwarfism:_classical_Seckel_syndrome_and_osteodysplastic_primordial_dwarfism_type_II_ L2 - http://dx.doi.org/10.1007/BF01883712 DB - PRIME DP - Unbound Medicine ER -