Introduction: Crouzon's syndrome and sinus pericranii (SP) are rare entities. Only few cases having both the features are reported. SP most commonly drains in relation to superior sagittal sinus and their communication to major posterior dural sinuses is rare.
Case Report: We report a rare case of Crouzon's syndrome with SP at a suboccipital location with termination of left transverse sinus into the SP draining further through the extracranial suboccipital and extravertebral cervical venous plexi into external jugular veins. Distal transverse sinus and sigmoid sinus on the left side were absent.
Conclusion: Crouzon's syndrome with SP is an extremely rare entity. SP with communication to major posterior dural venous sinuses is also rare and mostly associated with multi-suture craniosynostosis. Management depends on the volume of venous blood they are draining. Most of them are dominant type and their occlusion is not feasible. Preoperative diagnosis of a dominant SP is essential for proper surgical planning as it needs to be preserved mandatorily to prevent cerebral venous infarction.
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http://dx.doi.org/10.1159/000524134 | DOI Listing |
Childs Nerv Syst
December 2024
NJ Craniofacial Center, Morristown, NJ, 07960, USA.
Background: Goldenhar syndrome is a clinically heterogeneous disorder defined by a rare combination of congenital anomalies-an eye abnormality, in addition to two of the following three: ear anomalies, mandibular malformations, and vertebral defects. Notably, children with Goldenhar syndrome present with a high incidence of cervical spine malformations.
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Sleep Breath
November 2024
Chantilly - Les Jockeys Hospital, Gouvieux, France.
Crouzon syndrome (CS) is a hereditary disorder characterized by deformities of the face and skull brought on by syndromic craniosynostosis or the premature fusion of coronal sutures. Pediatric patients with Crouzon syndrome have a high likelihood of developing obstructive sleep apnea (OSAS), primarily due to skeletal hypoplasia and facial dysmorphism. Treatment of OSAS in patients with Crouzon syndrome requires multidisciplinary and sequential treatment planning because Crouzon syndrome often has different phenotypes with varying severity in OSA and facial dysmorphism.
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January 2025
Department of Internal Medicine, NAIHS, Kathmandu, Nepal.
Treacher Collins syndrome, also known as mandibulofacial dysostosis, is a rare congenital disorder affecting craniofacial development. It is caused by an autosomal dominant mutation, primarily in the TCOF1 gene, which impacts the development of the first and second branchial arches. We present the case of a 12-year-old male with bilateral conductive hearing loss and deformed ears, whose clinical and imaging findings were consistent with Treacher Collins syndrome.
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October 2024
Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7624 Pécs, Hungary.
Treacher Collins syndrome (TCS) is a rare congenital craniofacial disorder with variable penetrance and high genetic and phenotypic heterogeneity. It is caused by pathogenic variants in the , , and genes, and its major characteristic features are malar and mandibular hypoplasia, downward slanting of the palpebral fissures, and conductive hearing loss. In this study, five patients (two males and three females, age range from 2 to 29 years) with TCS were tested by Next-Generation Sequencing (NGS)-based sequencing and clinically characterized.
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December 2024
Department of Oral Pathology, Wroclaw Medical University, Poland.
Symmetry is present in various aspects of everyday life. A symmetrical face is considered attractive, whereas a lack of facial symmetry is regarded as a source of functional and aesthetic problems. Most of the people exhibit slight asymmetries, but some of them reveal severe asymmetries.
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