Localized acalvaria with craniosynostosis.
The authors report here a 3-year-old boy with localized absence of calvarial bones (partial acalvaria/hypocalvaria), associated with unique sagittal calcified bone and craniosynostosis. This major skull deformation led to a prominent protrusion of the cerebral hemisphere and other significant parenchymal changes that were well demonstrated by neuro-imaging. No digital abnormalities and only minor facial dysmorphism were observed; however, his development is grossly delayed. History and detailed investigations failed to explain the cause of his condition. Mutation testing of fibroblast growth factor receptor (FGFR) 1, 2 and 3 gave normal results. The combination of craniosynostosis and acalvaria in this surviving boy could be a rare presentation of a more lethal condition.
Faqeih
Eissa
E
Department of Pediatrics, King Fahad Medical City, Children's Hospital Departments of Radiology Medical Genetics Neuroscience, King Faisal Specialist Hospital, Riyadh, Kingdom of Saudi Arabia Departments of Medical Genetics and Pediatrics, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada.
Patay
Zoltan
Z
Rahbeeni
Zuhair
Z
Murtada
Jamila
J
Al Shail
Essam
E
Hall
Judith G
JG
D002675:Child, Preschool; D003398:Craniosynostoses / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology*; D002658:Developmental Disabilities / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D012886:Skull / Q000002:abnormalities*; D014057:Tomography, X-Ray Computed
D017468:Receptors, Fibroblast Growth Factor