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Multisuture craniosynostosis: a case report of unusual presentation of chromosome 14q32 deletion

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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.

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Acknowledgements

We would like to thank Mr Veerawat Korkiatsakul, a cytogenetic technologist at Human Genetics Laboratory, Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, for cytogenetic results. The authors thank the patient’s family for their support in this study.

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Authors and Affiliations

  1. Division of Plastic Surgery, Department of Surgery, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand

    Sarut Chaisrisawadisuk

  2. Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand

    Nithiwat Vatanavicharn

  3. Division of Neurosurgery, Department of Surgery, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand

    Inthira Khampalikit

  4. Cleft and Craniofacial South Australia, Women’s and Children’s Hospital, North Adelaide, South Australia, Australia

    Mark H. Moore

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  1. Sarut Chaisrisawadisuk
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  4. Mark H. Moore
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Contributions

SC: conception and design, collection and assembly of data, manuscript writing, final approval of manuscript NV: conception and design, collection and assembly of data, manuscript writing, final approval of manuscript IK: conception and design, collection and assembly of data, manuscript writing MHM: manuscript writing.

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Correspondence to Nithiwat Vatanavicharn.

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Chaisrisawadisuk, S., Vatanavicharn, N., Khampalikit, I. et al. Multisuture craniosynostosis: a case report of unusual presentation of chromosome 14q32 deletion. Childs Nerv Syst 39, 1317–1322 (2023). https://doi.org/10.1007/s00381-022-05788-x

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