نتایج جستجو برای: unilateral coronal synostosis
تعداد نتایج: 53463 فیلتر نتایج به سال:
Saethre-Chotzen syndrome (acrocephalosyndactyly type III) is a craniosynostosis syndrome inherited in an autosomal dominant manner. Although similar to the other craniosynostosis syndromes in its clinical presentation, this syndrome is caused by a mutation in the TWIST1 gene. The TWIST1 gene product is a transcription factor containing a basic helix-loop-helix (bHLH) domain important in the dev...
The standard surgical treatment for unilateral coronal synostosis is fronoto-orbital advancement. The technique is known for its high recurrence rate and established plagiocephaly remains a challenge. In this case report, the management of a 5-year-old with unicoronal plagiocephaly correction with fronto-orbital bone remodeling and advancement is presented. The previous surgery done at 6 months...
BACKGROUND Unilateral coronal synostosis (UCS) often causes notable facial twist in affected patients. This condition occurs when the midface deviates toward the synostotic side, and the lower face deviates away from the synostotic side. The exact underlying mechanism for this phenomenon remains unclear. It has been proposed that premature fusion of facial sutures may play a role in the formati...
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...
Fig. 1.-Case 1. Skull films. A, Frontal projection. Left orbit is small and round , with normally oriented orbital roof and lesser wing of sphenoid . Lateral wall of left orbit is broad and decreased in height; frontozygomatic suture is obliterated. B, Submentovertical projection. Left frontal area is depressed. Lateral wall of left orbit is short and directed more lateral than normal. There is...
Craniosynostosis, the premature closure of cranial suture, is a pathologic condition that affects 1/2000 live births. Saethre-Chotzen syndrome is a genetic condition characterized by craniosynostosis. The Saethre-Chotzen syndrome, which is defined by loss-of-function mutations in the TWIST gene, is the second most prevalent craniosynostosis. Although much of the genetics and phenotypes in crani...
a tower or steeple. Hence such a skull is often called a tower skull or steeple head. The supra-orbital ridges are low and feebly marked, and the hairy scalp begins at a high level. The eyes which are unduly prominent (exophthalmos) are set far apart (hypertelorism and are often divergent. The arch of the hard palate is also high and narrow, and there may be a varying degree of prognathism. Som...
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