Autosomal-recessive omodysplasia: Prenatal diagnosis and histomorphometric assessment of the physeal plates of the long bones

Abstract

Second-semester ultrasonography of a female fetus documented short femora and humeri and dislocation of the radii. Based on the clinical and postmortem radiological findings, autosomal-recessive omodysplasia was diagnosed. The physeal plates of the long tubular bones were assessed by computer-assisted image analysis. The dimensions and orientation of the chondrocytic lacunae in the physeal plates of the omodysplastic fetus were compared with those in the physeal plates of fetuses without gross limb abnormalities (oligohydramnios, n = 2; hydrocephalus, n = 2; Down syndrome, n = 1). The pathological characteristics of the omodysplastic physeal plates were an expanded zone of proliferating cartilage and an increased number of closely packed, small chondrocytes. We propose that a genetic, functional deficiency of the physeal cells, underlying the short-limbed dwarfism of autosomal-recessive omodysplasia, is partially compensated, albeit ineffectively, by an increased number of small chondrocytes in the proliferating zone of the physeal plate.

Autosomal recessive omodysplasia: Early prenatal diagnosis and a possible clue to the gene location

“…Prenatal diagnosis at 17 weeks of gestation and the histomorphometric assessment of the physeal plates of long bones has previously been reported by Borochowitz et al [1998].…”

Omodysplasia: The First Reported Brazilian Case

“…The features of all autosomal recessive reported cases [1][2][3][4][5][6][7][8][9][10][11][12][13] were compared with our patient ( Table 1). As in other cases of recessive omodysplasia, our patient does not have metacarpal shortening, a feature of the dominant form.…”

Boning up on glypicans—opportunities for new insights into bone biology

“…The short stature is caused by very short limbs. Only one histomorphometric skeletal study has been published and only on a foetus aborted at 17 weeks . In that study, Borochowitz et al show that at 17 weeks, the bones of the skull, vertebrae, ribs, hands and feet were normal but that there was a reduction in the length of the limbs.…”

“…Only one histomorphometric skeletal study has been published and only on a foetus aborted at 17 weeks . In that study, Borochowitz et al show that at 17 weeks, the bones of the skull, vertebrae, ribs, hands and feet were normal but that there was a reduction in the length of the limbs. Histomorphometric analyses of the femoral growth plate compared to that of several similarly aged foetuses with other abnormalities (but not limb deformity) indicated subtle structural changes in the growth plate.…”