Article

Case Report: A male newborn with occipital horn syndrome

2024-10-30

Abstract excerpt

Occipital horn syndrome (OHS) is a rare genetic disease and copper transport disorder caused by a faulty ATP7A gene with multisystemic presentations, most originally related to musculoskeletal and connective tissue affections. In our case, a male neonate with OHS presented soon after birth with pathognomonic occipital exostosis, cutis laxa at the nape region, and widely opened skull sutures and fontanels. A skelet...

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Literature Corpus work: 8704f513-04a9-50e3-a325-36ee94d00664
DOI: 10.12688/f1000research.154409.2

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