Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing.

doi:10.1002/ajmg.a.62499

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Article

Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing.

American journal of medical genetics. Part A - 1 Jan 2022

McDermott Helen, Robinson Hannah K, Caswell Richard, Gowda Harsha, Offiah Amaka, Naik Swati

Abstract excerpt

An extremely preterm infant presented with clinical and radiological features of Robinow syndrome including butterfly vertebrae, posterior rib fusion, brachydactyly, nail hypoplasia, and retromicrognathia resulting in difficult endotracheal intubation in the intensive care setting. Rapid trio exome sequencing detected a novel homozygous likely pathogenic missense variant in the ROR2 gene, NM_004560.3:c.950A>G,...

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PMID: 34558814
DOI: 10.1002/ajmg.a.62499

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