| Literature DB >> 29891876 |
Amina Al-Yassin1, Alistair D Calder2, Mike Harrison3, Tracy Lester4, Helen Lord4, Michael Oldridge4, Sophie Watkins3, Richard Keen5, Emma L Wakeling6.
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.Entities:
Mesh：
Substances：
Year: 2018 PMID： 29891876 PMCID： PMC6117264 DOI： 10.1038/s41431-018-0166-7
Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246