Homozygous GDF2-related hereditary hemorrhagic telangiectasia in a Chinese family
J Liu, J Yang, X Tang, H Li, Y Shen, W Gu, S Zhao - Pediatrics, 2020 - publications.aap.org
Hereditary hemorrhagic telangiectasia (HHT) can be clinically diagnosed, but children often
lack characteristic features. We report a family with homozygous growth differentiation factor
2 (GDF2)–related HHT diagnosed by genetic testing. A boy aged 5 years and 2 months
presented with isolated hypoxemia. He was the product of a consanguineous marriage; his
parents were second cousins. Physical examination revealed cyanosis of nail beds and
clubbed fingers. Pulse oxygen saturation was 84% to 89%. Lung function, contrast …
lack characteristic features. We report a family with homozygous growth differentiation factor
2 (GDF2)–related HHT diagnosed by genetic testing. A boy aged 5 years and 2 months
presented with isolated hypoxemia. He was the product of a consanguineous marriage; his
parents were second cousins. Physical examination revealed cyanosis of nail beds and
clubbed fingers. Pulse oxygen saturation was 84% to 89%. Lung function, contrast …