A new skeletal dysplasia syndrome with rhizomelia of the humeri and other malformations

Urbach, D.; Hertz, Marjorie; Shine, M.; Goodman, Richard M.

doi:10.1111/j.1399-0004.1986.tb00775.x

Cited by 11 publications

References 8 publications

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Familial rhizomelic dysplasia: Phenotypic variation or heterogeneity?

et al. 1987

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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.

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Familial rhizomelic dysplasia: Phenotypic variation or heterogeneity?

et al. 1987

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Omodysplasia

Maroteaux¹,

Sauvegrain²,

Chrispin

et al. 1989

Am. J. Med. Genet.

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Three cases of a new congenital bone disorder associating facial anomalies (depressed nasal bridge, broad base of the nose, long philtrum) with short humeri. The complex skeletal abnormalities consist of a defect of growth of the distal end of the humerus, a hypoplastic everted condyle, an upper radioulnar diastasis, and a anterolateral dislocation of the head of the radius. The condition is dominantly inherited. Two other cases with the same facial anomalies and osteoarticular abnormalities of the upper limbs are described. These cases also showed a severe micromelic dwarfism due to shortness of the long bones, particularly the femora. The present authors consider that these represent variable expressivity of the same disorder and propose that this condition be called omodysplasia (from the Greek term for humerus).

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

Borochowitz

Barak²,

Hershkowitz³

1991

Am. J. Med. Genet.

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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.

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A new skeletal dysplasia syndrome with rhizomelia of the humeri and other malformations

Cited by 11 publications

References 8 publications

Familial rhizomelic dysplasia: Phenotypic variation or heterogeneity?

Familial rhizomelic dysplasia: Phenotypic variation or heterogeneity?

Omodysplasia

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

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