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Article

The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.

American journal of medical genetics. Part A - 1 Feb 2024

Yap Jia Ying Celeste, Lim Jiin Ying, Bhatia Anju, Tan Vic Khi June, Koo Stephanie, Nishimura Gen, Moosa Shahida, Koh Ai Ling, Tan Ene Choo, Fong Nikki, Jamuar Saumya Shekhar

Abstract excerpt

We report on a female neonate with a clinico-radiological presentation in keeping with a lethal form of prenatal Caffey disease (PCH). She had antenatal and postnatal features of severely bowed long bones, small chest, diaphyseal hyperostosis and polyhydramnios and died shortly after birth. Initial testing excluded COL1A1-related PCH, as an OI gene panel, consisting of COL1A1, COL1A2, CRTAP, and P3H1 genes, was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37799085
DOI: 10.1002/ajmg.a.63420

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