RASopathy in Patients With Isolated Sagittal Synostosis
نویسندگان
چکیده
منابع مشابه
Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation
Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that shows greater severity in females and is largely attributed to mutations in EFNB1. A 7-year-old boy presented with hypertelorism, broad nasal root, midfacial hypoplasia, mandibular prognathia, ptosis, and scaphocephaly was clinically diagnosed with CFNS. Three-dimensional computed tomographic scans confirmed the isolated sagitta...
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A series of 50 consecutive children with premature sagittal synostosis is reported. All were treated surgically; 43 were male, 47 were leukodermic and two are siblings. In the pre-operative examination, the head shape, skull measurements and radiologic findings were evaluated; 38 children were operated on before six months of age and 12 of them, between six and 12 months of age. The surgical te...
متن کاملCongenital Muscular Torticollis Concurrent With Sagittal Synostosis: A Case Report
Congenital muscular torticollis (CMT) and craniosynostosis are diseases that cause plagiocephaly and craniofacial asymmetry in children. In our literature review, we did not find any report of concurrent manifestation of CMT and craniosynostosis. A 41-month-old boy visited our hospital with left torticollis, right laterocollis, and craniofacial asymmetry as the main findings. During clinical ex...
متن کاملPre- and postoperative developmental attainment in sagittal synostosis.
AIMS To investigate whether sagittal synostosis (SS) has consequences for children's mental and psychomotor development, and whether surgery has any impact on this. METHODS The study involved 28 children with SS who underwent corrective surgery at a mean age of 8.0 (SD 7.16) months, and 28 normal controls. All the children with SS were assessed pre- and postoperatively using the Griffiths Men...
متن کاملDetermination of Cranial Index in Sagittal Synostosis using Artificial Intelligent Techniques
Background: At least one main suture of skull is closed prematurely in craniosynostosis; which may lead to different skull and face deformities and various types of child developmental delay. Increased postero-anterior diameter of skull is the main characteristic of sagittal craniosynostosis. Cranial index is the most important parameter for diagnosis and monitoring of children with this deform...
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ژورنال
عنوان ژورنال: Global Pediatric Health
سال: 2019
ISSN: 2333-794X,2333-794X
DOI: 10.1177/2333794x19846774