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Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II.

Abstract

We report a mild form of lissencephaly or a pachygyric brain in a girl with microcephalic osteodysplastic primordial 'dwarfism' (MOPD) type II. She was born with severe intrauterine growth failure. A diagnosis of MOPD type II was warranted by persistent postnatal growth failure, microcephaly with a Seckel-like facial appearance, and distinctive radiological findings, including overtubulation of the long bones, metaphyseal cupping of the distal femora, and brachyphalangy with ivory epiphyses. Brain MRI showed thickened cerebral cortices with few and large gyri, most prominently in the frontal and posterior temporal regions. The Sylvian fissures developed incompletely, and the posterior horns of the lateral ventricle were dilated (colpocephaly). Despite the severe imaging findings, she showed only mild retardation of psychomotor development. To date, only minor brain malformations have attracted attention in MOPD type II. Our experience may suggest a wider spectrum of brain anomalies in this entity.

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  • Authors+Show Affiliations

    ,

    Department of Pediatrics, Shimada Center for Rehabilitation and Neurodevelopment Intervention, 1-31-1 Nakazawa, Tama-city, Tokyo 206-0036, Japan. ozawa@shimaryo.or.jp

    , , , ,

    Source

    Brain & development 27:3 2005 Apr pg 237-40

    MeSH

    Abnormalities, Multiple
    Bone and Bones
    Brain
    Child, Preschool
    Dwarfism
    Female
    Humans
    Infant
    Infant, Newborn
    Magnetic Resonance Imaging
    Microcephaly

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    15737708

    Citation

    Ozawa, Hiroshi, et al. "Pachygyria in a Girl With Microcephalic Osteodysplastic Primordial Short Stature Type II." Brain & Development, vol. 27, no. 3, 2005, pp. 237-40.
    Ozawa H, Takayama C, Nishida A, et al. Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II. Brain Dev. 2005;27(3):237-40.
    Ozawa, H., Takayama, C., Nishida, A., Nagai, T., Nishimura, G., & Higurashi, M. (2005). Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II. Brain & Development, 27(3), pp. 237-40.
    Ozawa H, et al. Pachygyria in a Girl With Microcephalic Osteodysplastic Primordial Short Stature Type II. Brain Dev. 2005;27(3):237-40. PubMed PMID: 15737708.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II. AU - Ozawa,Hiroshi, AU - Takayama,Chikako, AU - Nishida,Akira, AU - Nagai,Toshiro, AU - Nishimura,Gen, AU - Higurashi,Makoto, PY - 2003/11/26/received PY - 2004/06/07/revised PY - 2004/06/15/accepted PY - 2005/3/2/pubmed PY - 2005/5/4/medline PY - 2005/3/2/entrez SP - 237 EP - 40 JF - Brain & development JO - Brain Dev. VL - 27 IS - 3 N2 - We report a mild form of lissencephaly or a pachygyric brain in a girl with microcephalic osteodysplastic primordial 'dwarfism' (MOPD) type II. She was born with severe intrauterine growth failure. A diagnosis of MOPD type II was warranted by persistent postnatal growth failure, microcephaly with a Seckel-like facial appearance, and distinctive radiological findings, including overtubulation of the long bones, metaphyseal cupping of the distal femora, and brachyphalangy with ivory epiphyses. Brain MRI showed thickened cerebral cortices with few and large gyri, most prominently in the frontal and posterior temporal regions. The Sylvian fissures developed incompletely, and the posterior horns of the lateral ventricle were dilated (colpocephaly). Despite the severe imaging findings, she showed only mild retardation of psychomotor development. To date, only minor brain malformations have attracted attention in MOPD type II. Our experience may suggest a wider spectrum of brain anomalies in this entity. SN - 0387-7604 UR - https://www.unboundmedicine.com/medline/citation/15737708/Pachygyria_in_a_girl_with_microcephalic_osteodysplastic_primordial_short_stature_type_II_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0387-7604(04)00140-8 DB - PRIME DP - Unbound Medicine ER -