Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II

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

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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.

Original languageEnglish
Pages (from-to)93-96
Number of pages4
JournalAmerican journal of medical genetics
Volume113
Issue number1
DOIs
Publication statusPublished - 2002 Nov 15

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Keywords

  • Endochondral bone formation
  • Microcephalic osteodysplastic primordial dwarfism type II
  • Seckel syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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