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  • Title: Familial congenital micromelic dysplasia with dislocation of radius and distinct face: a new skeletal dysplasia syndrome.
    Author: Borochowitz Z, Barak M, Hershkowitz S.
    Journal: Am J Med Genet; 1991 Apr 01; 39(1):91-6. PubMed ID: 1867270.
    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 [1989] represent a distinct, previously unpublished bone dysplasia.
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