Sagittal Craniosynostosis with Uncommon Anatomical Pathologies in a 56-Year-Old Male Cadaver
Sagittal craniosynostosis (CS) is a pathologic condition that results in premature fusion of the sagittal suture, restricting the transverse growth of the skull leading in some cases to elevated intracranial pressure and neurodevelopmental delay. There is still much to be learned about the etiology...
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Pathology |
| Online Access: | http://dx.doi.org/10.1155/2019/8034021 |
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| author | Andrey Frolov Craig Lawson Joshua Olatunde James T. Goodrich John R. Martin III |
| author_facet | Andrey Frolov Craig Lawson Joshua Olatunde James T. Goodrich John R. Martin III |
| author_sort | Andrey Frolov |
| collection | DOAJ |
| description | Sagittal craniosynostosis (CS) is a pathologic condition that results in premature fusion of the sagittal suture, restricting the transverse growth of the skull leading in some cases to elevated intracranial pressure and neurodevelopmental delay. There is still much to be learned about the etiology of CS. Here, we report a case of 56-year-old male cadaver that we describe as sagittal CS with torus palatinus being an additional anomaly. The craniotomy was unsuccessful (cephalic index, CI = 56) and resulted in abnormal vertical outgrowth of the craniotomized bone strip. The histological analysis of the latter revealed atypical, noncompensatory massive bone overproduction. Exome sequencing of DNA extracted from the cadaveric tissue specimen performed on the Next Generation Sequencing (NGS) platform yielded 81 genetic variants identified as pathologic. Nine of those variants could be directly linked to CS with five of them targeting RhoA GTPase signaling, with a potential to make it sustained in nature. The latter could trigger upregulated calvarial osteogenesis leading to premature suture fusion, skull bone thickening, and craniotomized bone strip outgrowth observed in the present case. |
| format | Article |
| id | doaj-art-b7a1b4192ec84cc99f015f7867051c42 |
| institution | Kabale University |
| issn | 2090-6781 2090-679X |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pathology |
| spelling | doaj-art-b7a1b4192ec84cc99f015f7867051c422025-02-03T01:12:34ZengWileyCase Reports in Pathology2090-67812090-679X2019-01-01201910.1155/2019/80340218034021Sagittal Craniosynostosis with Uncommon Anatomical Pathologies in a 56-Year-Old Male CadaverAndrey Frolov0Craig Lawson1Joshua Olatunde2James T. Goodrich3John R. Martin III4Center for Anatomical Science and Education, Department of Surgery, Saint Louis University School of Medicine, Saint Louis, MO 63104, USACenter for Anatomical Science and Education, Department of Surgery, Saint Louis University School of Medicine, Saint Louis, MO 63104, USACenter for Anatomical Science and Education, Department of Surgery, Saint Louis University School of Medicine, Saint Louis, MO 63104, USADepartments of Neurological Surgery, Pediatrics, Plastic and Reconstructive Surgery, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY 10467, USACenter for Anatomical Science and Education, Department of Surgery, Saint Louis University School of Medicine, Saint Louis, MO 63104, USASagittal craniosynostosis (CS) is a pathologic condition that results in premature fusion of the sagittal suture, restricting the transverse growth of the skull leading in some cases to elevated intracranial pressure and neurodevelopmental delay. There is still much to be learned about the etiology of CS. Here, we report a case of 56-year-old male cadaver that we describe as sagittal CS with torus palatinus being an additional anomaly. The craniotomy was unsuccessful (cephalic index, CI = 56) and resulted in abnormal vertical outgrowth of the craniotomized bone strip. The histological analysis of the latter revealed atypical, noncompensatory massive bone overproduction. Exome sequencing of DNA extracted from the cadaveric tissue specimen performed on the Next Generation Sequencing (NGS) platform yielded 81 genetic variants identified as pathologic. Nine of those variants could be directly linked to CS with five of them targeting RhoA GTPase signaling, with a potential to make it sustained in nature. The latter could trigger upregulated calvarial osteogenesis leading to premature suture fusion, skull bone thickening, and craniotomized bone strip outgrowth observed in the present case.http://dx.doi.org/10.1155/2019/8034021 |
| spellingShingle | Andrey Frolov Craig Lawson Joshua Olatunde James T. Goodrich John R. Martin III Sagittal Craniosynostosis with Uncommon Anatomical Pathologies in a 56-Year-Old Male Cadaver Case Reports in Pathology |
| title | Sagittal Craniosynostosis with Uncommon Anatomical Pathologies in a 56-Year-Old Male Cadaver |
| title_full | Sagittal Craniosynostosis with Uncommon Anatomical Pathologies in a 56-Year-Old Male Cadaver |
| title_fullStr | Sagittal Craniosynostosis with Uncommon Anatomical Pathologies in a 56-Year-Old Male Cadaver |
| title_full_unstemmed | Sagittal Craniosynostosis with Uncommon Anatomical Pathologies in a 56-Year-Old Male Cadaver |
| title_short | Sagittal Craniosynostosis with Uncommon Anatomical Pathologies in a 56-Year-Old Male Cadaver |
| title_sort | sagittal craniosynostosis with uncommon anatomical pathologies in a 56 year old male cadaver |
| url | http://dx.doi.org/10.1155/2019/8034021 |
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