Familial rhizomelic dysplasia: Phenotypic variation or heterogeneity?

Abstract

In a consanguineous kindred of mixed ancestry in Cape Town we observed a boy with severe shortness of stature and an unusual skeletal dysplasia with marked shortness of the humeri. A male one-half second cousin had gross abnormalities of the lower limbs, which were worst in the femora, but his skeleton was otherwise virtually normal. A brother and sister of this latter individual had been similarly affected and their parents were consanguineous. The question arises as to whether two similar but separate disorders are present in this family or whether the condition in these two persons represents extreme phenotypic variability of the same autosomal recessive entity.

Omodysplasia

“…A patient with similar manifestations has been recently reported by Viljoen et al [1987], who suggest a recessive inheritance because a first cousin of the father, born from a consanguineous union, presented with skeletal anomalies; these anomalies, located to the lower limbs, appear so different from those of the propositus that the relationship between the two is questionable.…”

“…In all of these patients except one, patient no. 1 from Viljoen et al [1987], the defect was limited to the proximal humerus. The present report describes five patients with a new osteochondrodysplasia that is characterized by short humeri due to a developmental defect of the distal end, anterolateral dislocation of the radial head, and an upper radioulnar diastasis.…”

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

“…The face is characteristic, with a high forehead, frontal bossing, a supraglabellar capillary nevus, a depressed nasal bridge, a short nose with anteverted nostrils, and protrusion of the anterior-inferior portion of the maxilla. The philtrum is long and the lips are thick [Al-Gazali and Al-Asaad, 1995;Baxova et al, 1994; Borochowitz et al, 1991Borochowitz and Rimoin, 1995;Gugliantini et al, 1991;Kiss et al, 1991;Maroteaux et al, 1989;Stoll et al, 1995;Viljoen et al, 1987]. The epiphyseal growth plate of normal tubular bones is composed of a cylinder displaying progressive maturation of the cartilage and its replacement by bone.…”

“…Autosomal-recessive omodysplasia (AROD), a novel type of skeletal dysplasia, is characterized by severe congenital micromelia with shortness and distal tapering of the long tubular bones, resulting in a distinctive club-like appearance of the humeri and the femora [Borochowitz et al, 1991]. The diagnosis of AROD in the 13 newborn infants described thus far was made postnatally, based on clinical and radiological examinations [Al-Gazali and Al-Asaad, 1995;Baxova et al, 1994;Borochowitz et al, 1991Borochowitz and Rimoin, 1995;Gugliantini et al, 1991;Kiss et al, 1991;Maroteaux et al, 1989;Stoll et al, 1995;Viljoen et al, 1987].…”

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.…”