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Article

Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).

Clinical dysmorphology - 1 Jul 2021

Sabir Ataf H, Singhal Juhi, Man Jessica, Mensah Nana Ekuntan, Ahn Joo Wook, Cheung Moira S, Irving Melita

Abstract excerpt

We report a further case of spondylometaphyseal dysplasia - corner fracture type due to the fibronectin-1 gene (SMD-FN1) in a child originally thought to have metaphyseal chondrodysplasia-Brussels type (MCD Brussels). We highlight phenotypic differences with the SMD-FN1 published reports. This case is unique in terms of the method of molecular confirmation. Findings from the 100 000 Genomes Project were...

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PMID: 33605604
DOI: 10.1097/MCD.0000000000000369

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