title: Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II.
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.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. ryuji.fukuzawa@stonebow.otago.ac.nz
authors.forename: Ryuji
authors.initials: R
authors.lastname: Fukuzawa
authors.forename: Seiji
authors.initials: S
authors.lastname: Sato
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Sullivan
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Tomonobu
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Nobutake
authors.initials: N
authors.lastname: Matsuo
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D044466:Asian People; D001344:Autopsy; D001724:Birth Weight; D002585:Cesarean Section; D004392:Dwarfism / Q000145:classification / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007564:Japan; D008297:Male; D008831:Microcephaly / Q000145:classification / Q000235:genetics / Q000473:pathology