Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II

Ryuji Fukuzawa, Seiji Sato, Michael J. Sullivan, Gen Nishimura, Tomonobu Hasegawa, Nobutake Matsuo

研究成果: Article査読

11 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)93-96
ページ数4
ジャーナルAmerican journal of medical genetics
113
1
DOI
出版ステータスPublished - 2002 11 15

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

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