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Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II.
Brain Dev 2005; 27(3):237-40BD

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.

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.jpNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

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 -