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

被引:0
作者
Chaisrisawadisuk, Sarut [1 ]
Vatanavicharn, Nithiwat [2 ]
Khampalikit, Inthira [3 ]
Moore, Mark H. [4 ]
机构
[1] Mahidol Univ, Fac Med Siriraj Hosp, Dept Surg, Div Plast Surg, Bangkok, Thailand
[2] Mahidol Univ, Fac Med Siriraj Hosp, Dept Pediat, Div Med Genet, Bangkok, Thailand
[3] Mahidol Univ, Fac Med Siriraj Hosp, Dept Surg, Div Neurosurg, Bangkok, Thailand
[4] Womens & Childrens Hosp, Cleft & Craniofacial South Australia, North Adelaide, SA, Australia
关键词
Craniosynostosis; Chromosome; 14q32; deletion; Craniofacial abnormalities; INTRACRANIAL-PRESSURE; MSX2; GENE; YY1; GROWTH; HAPLOINSUFFICIENCY; SUTURE;
D O I
10.1007/s00381-022-05788-x
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
引用
收藏
页码:1317 / 1322
页数:6
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