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 language | English |
|---|---|
| Pages (from-to) | 93-96 |
| Number of pages | 4 |
| Journal | American Journal of Medical Genetics |
| Volume | 113 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 2002 Nov 15 |
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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 journal › Article
}
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 - 2002/11/15
Y1 - 2002/11/15
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.
AB - 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.
KW - Endochondral bone formation
KW - Microcephalic osteodysplastic primordial dwarfism type II
KW - Seckel syndrome
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U2 - 10.1002/ajmg.10716
DO - 10.1002/ajmg.10716
M3 - Article
C2 - 12400072
AN - SCOPUS:0037110999
VL - 113
SP - 93
EP - 96
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
SN - 1552-4868
IS - 1
ER -