Infantile osteopetrosis, craniosynostosis, and Chiari malformation type I with novel OSTEM1 mutation

We report a case of a 9-month-old Arab infant, with novel OSTEM mutation and unpublished triad of osteopetrosis (OP), craniosynostosis (CS), and Chiari malformation type I (CM1). The index presented with progressive irritability, abnormal movements, following an accidental fall. The history revealed...

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Detalles Bibliográficos
Autores principales: Mahmoud Adel, A. H., Abdullah, A. Al Jabri, Eissa, Faqeih
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3680893/
https://www.ncbi.nlm.nih.gov/pubmed/23772242
http://dx.doi.org/10.4103/1817-1745.111420

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3680893/
https://www.ncbi.nlm.nih.gov/pubmed/23772242
http://dx.doi.org/10.4103/1817-1745.111420

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