Spahr and Spahr-Hartmann (1961) described 4 sibs, of normal but consanguineous parents, in whom bowing of the legs was striking; at least 1 sib required bilateral osteotomy. Farag and Teebi (1990) described a second family with this type ... Spahr and Spahr-Hartmann (1961) described 4 sibs, of normal but consanguineous parents, in whom bowing of the legs was striking; at least 1 sib required bilateral osteotomy. Farag and Teebi (1990) described a second family with this type of metaphyseal chondrodysplasia. Among the children of consanguineous, phenotypically normal parents, 4 sibs (3 females and 1 male) were affected. Megarbane et al. (2008) described a consanguineous Lebanese family in which 6 individuals had features of metaphyseal Spahr-type dysplasia. All presented with postnatal disproportionate short stature, short limbs, genu varum, and metaphyseal abnormalities. The patients had additional features, such as carpal bone hypoplasia, abnormal ribs, slightly short femoral necks, and iliac crest irregularity, leading the authors to suggest that the metaphyseal changes regress in affected adults. Megarbane et al. (2008) noted clinical similarities to cartilage-hair hypoplasia (see 250250 and 250460) and Schmid metaphyseal dysplasia (156500), which are caused by mutation in the RMRP (157660) and COL10A1 genes, respectively.
Megarbane et al. (2008) performed direct sequencing of the transcribed region and approximately 500 bp promoter region of the RMRP gene in a consanguineous Lebanese family in which 6 individuals had features of ... - Exclusion Studies Megarbane et al. (2008) performed direct sequencing of the transcribed region and approximately 500 bp promoter region of the RMRP gene in a consanguineous Lebanese family in which 6 individuals had features of metaphyseal Spahr-type dysplasia and did not find any alteration that could be related with the phenotype.