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

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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 [1989] represent a distinct, previously unpublished bone dysplasia.

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