A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genes.
We report a consanguineous Lebanese family where six individuals had disproportionate short stature, short limbs, and bilateral genu varum that were apparent after 2 years of age. Major radiographic features in infancy included flared, cupped, and ragged metaphyses of all long bones, delayed maturation of the scaphoid, trapezoid, and trapezium bones, wide and slightly irregular ribs, short femoral necks, flat femoral heads, and irregularity of the iliac crest. Radiographs of an affected adult showed diminished metaphyseal changes and slightly short femoral necks, when compared to the younger patients. We suggest that this family is affected with the Spahr type of metaphyseal chondrodysplasia. Sequencing of RMRP, and a haplotype analysis using highly informative markers around the COL10A1 excluded both genes from being pathogenic in this family. We are aware of only two previous reports of families with clinical features similar to the Spahr type of metaphyseal chondrodysplasia.
Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon. megarbane@usj.edu.lb
André
A
Mégarbané
Eliane
E
Chouery
Ismat
I
Ghanem
D000328:Adult; D002675:Child, Preschool; D003094:Collagen / Q000235:genetics*; D003241:Consanguinity; D004722:Endoribonucleases / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008297:Male; D010009:Osteochondrodysplasias / Q000145:classification / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography
D003094:Collagen; D004722:Endoribonucleases; C058330:mitochondrial RNA-processing endoribonuclease