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Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II.
Am J Med Genet 2002; 113(1):93-6AJ

Abstract

Microcephalic osteodysplastic primordial "dwarfism" (MOPD) is a group of disorders similar to Seckel syndrome. Three subtypes (types I-III) have been reported. We report here the first autopsy case of MOPD type II. The patient was a Japanese girl with typical clinical and radiological manifestations of MOPD type II. The manifestations included severe intrauterine and postnatal growth failure, microcephaly, a distinctive facial appearance, micromelia, brachytelephalangy, coxa vara, and V-shaped metaphyses of the distal femora. Other than small cerebral hemispheres, no neuropathological abnormalities were found. Chondro-osseous histology showed thinning of the growth plate, ballooned chondrocytes, reduced cellularity, lack of zonal and columnar formations, and poor formation of primary trabeculae. These findings suggest that impairment of chondrocytic formation and differentiation is the major pathogenesis of MOPD type II.

Authors+Show Affiliations

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. ryuji.fukuzawa@stonebow.otago.ac.nzNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12400072

Citation

Fukuzawa, Ryuji, et al. "Autopsy Case of Microcephalic Osteodysplastic Primordial "dwarfism" Type II." American Journal of Medical Genetics, vol. 113, no. 1, 2002, pp. 93-6.
Fukuzawa R, Sato S, Sullivan MJ, et al. Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II. Am J Med Genet. 2002;113(1):93-6.
Fukuzawa, R., Sato, S., Sullivan, M. J., Nishimura, G., Hasegawa, T., & Matsuo, N. (2002). Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II. American Journal of Medical Genetics, 113(1), pp. 93-6.
Fukuzawa R, et al. Autopsy Case of Microcephalic Osteodysplastic Primordial "dwarfism" Type II. Am J Med Genet. 2002 Nov 15;113(1):93-6. PubMed PMID: 12400072.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II. AU - Fukuzawa,Ryuji, AU - Sato,Seiji, AU - Sullivan,Michael J, AU - Nishimura,Gen, AU - Hasegawa,Tomonobu, AU - Matsuo,Nobutake, PY - 2002/10/26/pubmed PY - 2003/3/27/medline PY - 2002/10/26/entrez SP - 93 EP - 6 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 113 IS - 1 N2 - Microcephalic osteodysplastic primordial "dwarfism" (MOPD) is a group of disorders similar to Seckel syndrome. Three subtypes (types I-III) have been reported. We report here the first autopsy case of MOPD type II. The patient was a Japanese girl with typical clinical and radiological manifestations of MOPD type II. The manifestations included severe intrauterine and postnatal growth failure, microcephaly, a distinctive facial appearance, micromelia, brachytelephalangy, coxa vara, and V-shaped metaphyses of the distal femora. Other than small cerebral hemispheres, no neuropathological abnormalities were found. Chondro-osseous histology showed thinning of the growth plate, ballooned chondrocytes, reduced cellularity, lack of zonal and columnar formations, and poor formation of primary trabeculae. These findings suggest that impairment of chondrocytic formation and differentiation is the major pathogenesis of MOPD type II. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/12400072/Autopsy_case_of_microcephalic_osteodysplastic_primordial_"dwarfism"_type_II_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2002&volume=113&issue=1&spage=93 DB - PRIME DP - Unbound Medicine ER -