| Craniosynostosis in Kabuki syndrome. | |
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MedLine Citation:
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PMID: 20672944 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Niikawa-Kuroki, or Kabuki syndrome (KS), is characterized by distinctive facial features, skeletal anomalies, persisting fingertip pads with dermatoglyphic abnormalities, short stature, and mental retardation. Neurological manifestations and CNS anomalies have been described in some patients with this condition. However, craniosynostosis has been documented in only 4 patients with KS who did not undergo operations. The authors report a case of KS with unicoronal synostosis that constitutes the first documented instance of a patient with this syndrome submitted to surgery. Previous reported instances of craniosynostosis occurring in KS are briefly reviewed. Although rarely documented, craniosynostosis might represent a relatively frequent feature of this syndrome. Kabuki syndrome should be considered at the time of evaluating children with craniosynostosis. The diagnosis of KS can be suspected from the patients' characteristic facial features. Kabuki syndrome appears to be an underdiagnosed condition in the craniosynostosis population. Given that most patients with this syndrome suffer from only mild to moderate mental retardation, surgical correction can be considered in instances of KS with craniosynostosis. |
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Authors:
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Juan F Martínez-Lage; Matías Felipe-Murcia; Encarna Guillén Navarro; María-José Almagro; Antonio López López-Guerrero; Miguel A Pérez-Espejo |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of neurosurgery. Pediatrics Volume: 6 ISSN: 1933-0715 ISO Abbreviation: J Neurosurg Pediatr Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-08-02 Completed Date: 2010-08-23 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101463759 Medline TA: J Neurosurg Pediatr Country: United States |
Other Details:
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Languages: eng Pagination: 198-201 Citation Subset: IM |
Affiliation:
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Regional Service of Neurosurgery, Virgen de la Arrixaca University Hospital, Murcia, Spain. juanf.martinezlage@cablemurcia.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis*,
surgery* Child, Preschool Comorbidity Craniofacial Abnormalities / diagnosis*, surgery* Craniosynostoses / diagnosis*, surgery* Craniotomy / methods* Developmental Disabilities / diagnosis Facies Female Follow-Up Studies Humans Image Processing, Computer-Assisted Imaging, Three-Dimensional Infant Infant, Newborn Infant, Premature, Diseases / diagnosis*, surgery* Syndrome Tomography, X-Ray Computed |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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