ArticleEuropean journal of human genetics : EJHG2018
A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 19 citations in OpenAlex.
- A RUNX2 reporter is expressed prior to osteochondral differentiation and models metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations.Journal of applied oral science : revista FOB · 2022Article
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- Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.International journal of molecular sciences · 2021Review
- RUNX2 promotes malignant progression in gastric cancer by regulating COL1A1.Cancer biomarkers : section A of Disease markers · 2021Article
- p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation.BMC genetics · 2019Article
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB) is an autosomal-dominant skeletal dysplasia characterised by metaphyseal flaring of the long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, brachydactyly, dental anomalies and mild osteoporosis. To date, only one large French Canadian family and a Finnish woman have been reported with the condition. In both, intragenic duplication encompassing exons 3-5 of the RUNX2 gene was identified. We describe a new, three-generation family with clinical features of MDMHB and an intragenic tandem duplication of RUNX2 exons 3-6. Dental problems were the primary presenting feature in all four affected individuals. We compare the features in our family to those previously reported in MDMHB, review the natural history of this condition and highlight the importance of considering an underlying skeletal dysplasia in patients presenting with significant dental problems and other suggestive features, including disproportionate short stature and/or digital anomalies.
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