Multisuture craniosynostosis: a case report of unusual presentation of chromosome 14q32 deletion
Issued Date
2023-05-01
Resource Type
ISSN
02567040
eISSN
14330350
Scopus ID
2-s2.0-85143894842
Pubmed ID
36512050
Journal Title
Child's Nervous System
Volume
39
Issue
5
Start Page
1317
End Page
1322
Rights Holder(s)
SCOPUS
Bibliographic Citation
Child's Nervous System Vol.39 No.5 (2023) , 1317-1322
Suggested Citation
Chaisrisawadisuk S., Vatanavicharn N., Khampalikit I., Moore M.H. Multisuture craniosynostosis: a case report of unusual presentation of chromosome 14q32 deletion. Child's Nervous System Vol.39 No.5 (2023) , 1317-1322. 1322. doi:10.1007/s00381-022-05788-x Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/82066
Title
Multisuture craniosynostosis: a case report of unusual presentation of chromosome 14q32 deletion
Author's Affiliation
Other Contributor(s)
Abstract
Multisuture craniosynostosis is associated with a number of syndromes and underlying gene mutations. It is rarely caused by chromosome disorders. For the management, multisuture craniosynostosis raises concerns about abnormal head shape and risks of increased intracranial pressure in affected patients. Calvarial reconstruction to reshape the skull shape and expand the intracranial volume plays an essential role in correcting particular problems. Here, we report a 2-month-old female infant presenting with low birth weight, abnormal head shape, dysmorphic facies and pinnae, hypotonia, and feeding difficulty. Three-dimensional computed tomographic scans revealed left unicoronal and sagittal synostoses. Chromosome microarray analysis revealed de novo chromosome 14q32.12–q32.31 deletion. Among the deleted genes, YY1 and BCL11B are the most likely candidate genes causing craniosynostosis. Some clinical features of the patient are similar to Temple syndrome indicating that the deleted region is paternal in origin. In summary, this is a rare case of chromosome 14q32 deletion with multisuture craniosynostosis. We also report the multidisciplinary management and clinical outcomes after early cranial vault remodelling procedures.