Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II

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

Research output: Contribution to journalArticle

10 Citations (Scopus)

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

Fingerprint

Autopsy
Coxa Vara
Dwarfism
Microcephaly
Growth Plate
Cerebrum
Chondrocytes
Femur
Histology
Growth
Type II Microcephalic Osteodysplastic Primordial Dwarfism

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II. / Fukuzawa, Ryuji; Sato, Seiji; Sullivan, Michael J.; Nishimura, Gen; Hasegawa, Tomonobu; Matsuo, Nobutake.

In: American Journal of Medical Genetics, Vol. 113, No. 1, 15.11.2002, p. 93-96.

Research output: Contribution to journalArticle

Fukuzawa, Ryuji ; Sato, Seiji ; Sullivan, Michael J. ; Nishimura, Gen ; Hasegawa, Tomonobu ; Matsuo, Nobutake. / Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II. In: American Journal of Medical Genetics. 2002 ; Vol. 113, No. 1. pp. 93-96.
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