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 CASE REPORT
Year : 2014  |  Volume : 9  |  Issue : 1  |  Page : 33-35

Craniosynostosis in a child with I-cell disease: The need for genetic analysis before contemplating surgery in craniosynostosis


1 Department of Neurosurgery, Nizam's Institute of Medical Sciences, Panjagutta, Hyderabad, Andhra Pradesh, India
2 Department of Medical Genetics, Nizam's Institute of Medical Sciences, Panjagutta, Hyderabad, Andhra Pradesh, India

Correspondence Address:
Lakshmanarao Chittem
Department of Neurosurgery, Nizam's Institute of Medical Sciences, Panjagutta, Hyderabad - 500 082, Andhra Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1817-1745.131480

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We are reporting a rare case of I-cell disease presenting with craniosynostosis. An 11-month-old child presented with abnormal head shape, developmental delay and bent bones. We planned for corrective surgery for craniosynostosis, but on genetic analysis I-cell disease was confirmed. After explaining the prognosis of I-cell disease, parents denied surgery. This case report emphasizes the fact that syndromic evaluation of craniosynostosis is very much essential before proceeding for corrective surgery.






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