title: Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings.
abstract: We report on two siblings of Iraqi descent with clinical and radiographic features of metaphyseal dysplasia, Spahr type (MDST), born to consanguineous unaffected parents. Molecular testing confirmed pathogenic mutations in MMP13. We review the considerable overlap between MDST and other related disorders. These cases confirm the phenotypic variability and regressive nature of MDST in addition to suggesting bone fragility as a feature.
authors: aNorth East Thames Regional Genetics Service bDepartment of Radiology, Great Ormond Street Hospital for Children, London, UK.
authors: Shereen
authors: S
authors: Tadros
authors: Richard H
authors: RH
authors: Scott
authors: Alistair D
authors: AD
authors: Calder
authors: Jane A
authors: JA
authors: Hurst
mesh_terms: D000483:Alleles; D001842:Bone and Bones / Q000378:metabolism / Q000473:pathology; D002648:Child; D003241:Consanguinity; D019066:Facies; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006720:Homozygote; D006801:Humans; D007493:Iraq; D008297:Male; D053509:Matrix Metalloproteinase 13 / Q000235:genetics*; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D035781:Siblings
chemical_list: C507079:MMP13 protein, human; D053509:Matrix Metalloproteinase 13