Case Report: A male newborn with occipital horn syndrome [version 2; peer review: 2 approved]
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 path...
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F1000 Research Ltd
2024-10-01
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| Online Access: | https://f1000research.com/articles/13-864/v2 |
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| author | Engy M. Hanna Marian K. H. Georgeos |
| author_facet | Engy M. Hanna Marian K. H. Georgeos |
| author_sort | Engy M. Hanna |
| collection | DOAJ |
| description | 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 skeletal survey showed occipital exostosis projecting from the line of insertion of the trapezius muscle and wide fontanels on skull X-ray films with no exostoses or deformities elsewhere. In addition to our case report being the second reported case for the condition detected early in the neonatal period, it also emphasizes the importance of investigating any sign thoroughly, as it may be an early alarming sign of a progressive disease that may affect the patient’s quality of life. In addition, it highlights the value of early diagnosis and multidisciplinary management of these patients. |
| format | Article |
| id | doaj-art-66c4ed967c954ef19d93a4cff707beb4 |
| institution | Kabale University |
| issn | 2046-1402 |
| language | English |
| publishDate | 2024-10-01 |
| publisher | F1000 Research Ltd |
| record_format | Article |
| series | F1000Research |
| spelling | doaj-art-66c4ed967c954ef19d93a4cff707beb42024-11-10T01:00:01ZengF1000 Research LtdF1000Research2046-14022024-10-0113173933Case Report: A male newborn with occipital horn syndrome [version 2; peer review: 2 approved]Engy M. Hanna0Marian K. H. Georgeos1https://orcid.org/0000-0002-6739-1371Neonatal Intensive Care Unit, King Fahad Medical City, Riyadh, Saudi ArabiaNICU Specialist, MRCPCH, MSc, Neonatal Intensive Care Unit, Arab Contractors Medical Center, Nasr City, Cairo Governorate, EgyptOccipital 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 skeletal survey showed occipital exostosis projecting from the line of insertion of the trapezius muscle and wide fontanels on skull X-ray films with no exostoses or deformities elsewhere. In addition to our case report being the second reported case for the condition detected early in the neonatal period, it also emphasizes the importance of investigating any sign thoroughly, as it may be an early alarming sign of a progressive disease that may affect the patient’s quality of life. In addition, it highlights the value of early diagnosis and multidisciplinary management of these patients.https://f1000research.com/articles/13-864/v2Occipital horn syndrome ATP7A gene cutis laxa copper transport disorders occipital exostosis Menkes disease.eng |
| spellingShingle | Engy M. Hanna Marian K. H. Georgeos Case Report: A male newborn with occipital horn syndrome [version 2; peer review: 2 approved] F1000Research Occipital horn syndrome ATP7A gene cutis laxa copper transport disorders occipital exostosis Menkes disease. eng |
| title | Case Report: A male newborn with occipital horn syndrome [version 2; peer review: 2 approved] |
| title_full | Case Report: A male newborn with occipital horn syndrome [version 2; peer review: 2 approved] |
| title_fullStr | Case Report: A male newborn with occipital horn syndrome [version 2; peer review: 2 approved] |
| title_full_unstemmed | Case Report: A male newborn with occipital horn syndrome [version 2; peer review: 2 approved] |
| title_short | Case Report: A male newborn with occipital horn syndrome [version 2; peer review: 2 approved] |
| title_sort | case report a male newborn with occipital horn syndrome version 2 peer review 2 approved |
| topic | Occipital horn syndrome ATP7A gene cutis laxa copper transport disorders occipital exostosis Menkes disease. eng |
| url | https://f1000research.com/articles/13-864/v2 |
| work_keys_str_mv | AT engymhanna casereportamalenewbornwithoccipitalhornsyndromeversion2peerreview2approved AT mariankhgeorgeos casereportamalenewbornwithoccipitalhornsyndromeversion2peerreview2approved |