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 [1989] represent a distinct, previously unpublished bone dysplasia.
We read with interest the letter by Sauvegrain and Maroteaux concerning our article on "Familial Congenital Micromelic Dysplasia With Dislocation of Radius and Distinct Face: A New Skeletal Dysplasia Syndrome" [Borochowitz et al., 19911. We were delighted to read that they agree that our cases were similar only to their cases 4 and 5 [Maroteaux et al., 19891, as well as to Viljoen's case 1 [Viljoen et al, 19873. We also appreciate their conclusion that omodysplasia has a different inheritance (autosoma1 dominant), as opposed to that in the family we studied (autosomal recessive). Thus, it is most appropriate to consider these groups as 2 different disorders, and not as clinical variants of a single entity. Examination of chondroosseous biochemistry and morphology may clarify this matter.
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