نتایج جستجو برای: craniosynostosis
تعداد نتایج: 2854 فیلتر نتایج به سال:
DESCRIPTION An 8-month-old baby boy presents with trigonocephaly and undergoes anterior cranial vault reconstruction for metopic craniosynostosis.
Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is treated surgically in infancy to prevent adverse neurologic outcomes. To identify mutations contributing to common non-syndromic midline (sagittal and metopic) craniosynostosis, we performed exome sequencing of 132 parent-offspring trios and 59 additional probands. Thirteen probands (7%) had damaging de...
PURPOSE OF THE REPORT There is a paucity of data on correlation of various imaging modalities with clinical findings in craniosynostosis. Moreover, no study has specifically reported the role of (99m)Tc-ECD SPECT in a large number of subjects with craniosynostosis. MATERIALS AND METHODS We prospectively analyzed a cohort of 85 patients with craniosynostosis from year 2007 to 2012. All patient...
BACKGROUND The premature fusion of one cranial suture, also referred to as non-syndromic craniosynostosis, most commonly involves premature fusion of the sagittal, coronal, or metopic sutures, in that order. Population-based epidemiological studies have found that the birth prevalence of single-suture craniosynostosis is both suture- and sex-dependent. METHODS Transcriptomic data from 199 ind...
Familial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene.
The craniosynostoses, the premature closure of the cranial sutures, are a common heterogeneous group of disorders, affecting about 1 in 2000 children at birth. About 20% have a distinct syndrome defined on clinical and family grounds. The delineation of these syndromes has become more precise with molecular analysis. Mutations in the fibroblast growth factor receptor 1, 2, 3 loci have been iden...
Craniosynostosis, the premature fusion of one or more skull sutures, occurs in approximately 1 in 2500 infants, with the majority of cases non-syndromic and of unknown etiology. Two common reasons proposed for premature suture fusion are abnormal compression forces on the skull and rare genetic abnormalities. Our goal was to evaluate whether different sub-classes of disease can be identified ba...
OBJECTIVE Craniosynostosis, a malformation caused by premature closure of 1 or more cranial sutures, is a rare birth defect usually of unknown cause; however, it is often associated with advanced maternal age. Because fertility treatments are also associated with increased maternal age, this study investigated the possible association between fertility treatments and craniosynostosis. METHODS...
The craniosynostosis syndromes are a heterogeneous group of sporadic, autosomal dominant disorders with significant clinical overlap. Recently, we described a large family with autosomal dominant craniosynostosis suggestive of SaethreChotzen syndrome, in which linkage to the Saethre-Chotzen syndrome loci on 7p had been excluded. We now report the presence of a mutation in the fibroblast growth ...
INSTRUCTION Craniosynostosis is a human disorder characterized by the premature fusing of the cranial sutures in infants. Point mutations in hotspot genes such as FGFRs are the well-recognized causes of syndromic craniosynostosis, but chromosomal abbreviations may also play an important role in developing this disease. Here, we report the case in China of a 2-year-boy dolichocephaly craniosynos...
Craniosynostosis occurs in one of 2500 live human births and may manifest as craniofacial disfiguration, seizure, and blindness. Craniotomy is performed to reshape skull bones and resect synostosed cranial sutures. We demonstrate for the first time that autologous mesenchymal stem cells (MSCs) and controlled-released TGFbeta3 reduced surgical trauma to localized osteotomy and minimized osteogen...
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