نتایج جستجو برای: premature craniosynostosis
تعداد نتایج: 62797 فیلتر نتایج به سال:
OBJECTIVE The MAPK/ERK signaling pathway has been implicated in several craniosynostosis syndromes and represents a plausible target for therapeutic management of craniosynostosis. The causes of sagittal nonsyndromic craniosynostosis (sNSC) have not been well understood and the role that MAPK/ERK signaling cascade plays in this condition warrants an investigation. We hypothesized that MAPK-sign...
OBJECTIVES To examine intellectual, behavioral, and emotional functioning of children who have syndromic craniosynostosis and to explore differences between diagnostic subgroups. METHODS A national sample of children who have syndromic craniosynostosis participated in this study. Intellectual, behavioral, and emotional outcomes were assessed by using standardized measures: Wechsler Intelligen...
PATIENT Female, 14 months FINAL DIAGNOSIS Slit ventricle syndrome Symptoms: Hydrocephalus • lethargy and seizure • vomiting MEDICATION - Clinical Procedure: - Specialty: Pediatrics and Neonatology. OBJECTIVE Challenging differential diagnosis. BACKGROUND Shunt surgery is a common solution for hydrocephalus in infancy. Slit ventricle syndrome and secondary craniosynostosis are late-onset...
Baller-Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia/hypoplasia and craniosynostosis (OMIM 218600). Of >20 cases reported so far, a few appear atypical and have been reassigned to other nosologic entities, including Fanconi anaemia, Roberts SC phocomelia, and Pfeiffer syndromes after demonstration of corresponding cytogenetic or molecular abnormalities. Clini...
The current study was performed with aim to investigate the fibroblast growth factor receptor 2 (FGFR2) gene in two Chinese families with two different forms of syndromic craniosynostosis, and to characterize their associated clinical features. Two families underwent complete ophthalmic examinations, and two patients from each family were diagnosed with craniosynostosis. Genomic DNA was extract...
The current study was performed with aim to investigate the fibroblast growth factor receptor 2 (FGFR2) gene in two Chinese families with two different forms of syndromic craniosynostosis, and to characterize their asso‐ ciated clinical features. Two families underwent complete ophthalmic examinations, and two patients from each family were diagnosed with craniosynostosis. Genomic DNA was extra...
OBJECTIVE The advent of endoscopic synostectomy has enabled early surgery for infants with craniosynostosis. Even though diagnosis is often made at birth, traditionally been delayed until the infant 3 months age. There have very few published reports this procedure being performed in neonatal period. authors discuss their experience ultra-early synostectomy, defined as an operation aged 8 weeks...
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