Familial congenital micromelic dysplasia with dislocation of radius and distinct face: A new skeletal dysplasia syndrome

Abstract

Recently Maroteaux et al. [Am J Med Genet 32:371–375] described omodysplasia as a new distinct congenital bone disorder in 3 cases; autosomal dominant inheritance was suggested. In this same report, 2 other cases (patients 4 and 5) presented with the same facial and upper limb anomalies, but were also noted to have severe shortness of lower limbs. The authors considered all 5 cases to represent variable expressivity of the same disorder, namely, omodysplasia. Here we report 4 patients (3 survivors), offspring of consanguineous Arabic‐Moslem couples. All presented at birth with severe short limb dwarfism and facial and radiologic appearance quite distinct from the first 3 patients of Maroteaux et al. [1989] with so‐called omodysplasia. Thus, we suggest that our 4 cases and patients 4 and 5 of Maroteaux et al. [1989] represent a distinct, previously unpublished bone dysplasia.

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.…”

“…The Arabic Moslem, 22-year-old, primigravid mother and the 25-year-old father were nonconsanguineous and healthy; they were not related to the children with AROD reported previously [Borochowitz et al, 1991]. No members of the parents' families were known to have short stature or short limbs.…”

“…Borochowitz et al [1991] and Baxova et al [1994] suggested that there are two variants of omodysplasia, an autosomal-dominant and an autosomal-recessive form. 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].…”

“…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.…”