Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings. Issue 1 (January 2017)

• Record Type: Journal Article
• Authors: Tadros, Shereen; Scott, Richard H.; Calder, Alistair D.; Hurst, Jane A.
• Is Part Of: Clinical dysmorphology. Volume 26:Issue 1(2017:Jan.)
• Publication Date: 2017-01
• Subjects: metaphyseal anadysplasia -- metaphyseal chondrodysplasia Schmid type -- metaphyseal dysplasia -- metaphyseal dysplasia, Spahr type -- metaphyseal dysplasia type Schmid -- MMP13 -- short stature -- Spahr type; Abnormalities, Human -- Periodicals; Genetic disorders -- Periodicals; Abnormalities -- periodicals; Abnormalities, Human; Periodicals; 616.042
• DOI: 10.1097/MCD.0000000000000151
• Languages: English
• ISSNs: 0962-8827

Abstract

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.