نتایج جستجو برای: severe multiple synostosis
تعداد نتایج: 1061560 فیلتر نتایج به سال:
OBJECTIVE To review research and theory regarding the neurobehavioral correlates and outcomes of single-suture, or isolated, craniosynostosis in children. METHODS A critical review of 17 studies of the hypothesized association between isolated craniosynostosis and neurodevelopment. RESULTS Isolated craniosynostosis is associated with a three- to fivefold increase in risk for cognitive defic...
Image-guided surgery potentially enhances intraoperative safety and outcomes in a variety of craniomaxillofacial procedures. We explore the efficiency of one intraoperative navigation system in a single complex craniofacial case, review the initial and recurring costs, and estimate the added cost (e.g., additional setup time, registration). We discuss the potential challenges and benefits of ut...
This work describes a simple technique for the safe removal of the midline parietal bone with the synostotic sagittal suture in infants with sagittal synostosis to avoid dural tearing and bleeding from the superior sagittal sinus. The technique consists of stepwise removal of the midline parietal bone in three pieces instead of one piece, starting with the anterior one-third midline bone being ...
Ann Saudi Med 2006;26(4):318-320 Amelia is the complete absence of a limb, which may occur in isolation or as part of multiple congenital malformations.1-3 The condition is uncommon and very little is known with certainty about the etiology. Whatever the cause, however, it results from an event which must have occurred between the fourth and eighth week of embryogenesis.1,3 The causal factors t...
TCF12-related craniosynostosis can be caused by small heterozygous loss-of-function mutations in TCF12. Large intragenic rearrangements, however, have not been described yet. Here, we present the identification of four large rearrangements in TCF12 causing TCF12-related craniosynostosis. Whole-genome sequencing was applied on the DNA of 18 index cases with coronal synostosis and their family me...
Klippel-Feil Syndrome (KFS), also known as synostosis of cervical spine, is sporadic, but seldom may be inherited [1,2]. The absence of population screening studies has made it impossible to define the exact incidence and prevalence of KFS. Nevertheless, it has been estimated that it occurs in approximately 1:40,000 to 1:42,000 births [3]. KFS, or synostosis of the cervical spine, occurs as a r...
Posttraumatic radioulnar synostosis (RUS) is a rare event following forearm fractures. Consequences are disabling for patients who suffer from functional limitation in forearm pronosupination. Distal RUS are even more rare and more difficult to treat because of high recurrence rates. The patient we describe in this paper came to our attention with a double distal RUS recurrence and a Darrach pr...
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