نتایج جستجو برای: apert syndrome
تعداد نتایج: 621953 فیلتر نتایج به سال:
Apert syndrome is a type of acrocephalosyndactilia that consists of craniofacial synostosis, midface hypoplasia and syndactyly, with an autosomal dominant inheritance pattern. During anesthesia, difficult intubation and ventilation may be observed because of abnormal airways. In one of our patients, visceral anomalies, such as esophageal stricture and post-strictural dilatation, may cause respi...
Apert syndrome is a rare kind of craniosynostosis which is identified with fusion of cranial sutures during prematurity period and causes physical and intellectual disorders in younger ages. These patients may show symptoms of obstructive sleep apnea due to abnormal craniofacial shape. This article introduces a patient with Apert syndrome, with apnea symptoms, cyanosis, snoring, restlessness, n...
Dominantly acting, allelic mutations of the fibroblast growth factor receptor 2 (FGFR2) gene have been described in five craniosynostosis syndromes. In Apert syndrome, characterised by syndactyly of the hands and feet, recurrent mutations of a serine-proline dipeptide (either Ser252Trp or Pro253Arg) in the linker between the IgII and IgIII extracellular immunoglobulin-like domains, have been do...
The purpose of this report is to present Apert syndrome patient by highlighting craniofacial characteristics and orthodontic approach to treatment.The patient, a 16-day-old female and the second child of healthy parents, was admitted to our department with primary complaint of cleft palate. She had a cone-shaped calvarium, midface hypoplasia, syndactyly of the hands and feet, hypertelorism, pro...
to report the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and periodontal disease and soft tissue alterations, in a subject with apert syndrome. clinical and radiographic examination of a patient with apert syndrome, aged 21 years old, not previously submitted for orthodontic or orthognathic treatment. dental anomalies were present in a pa...
Apert syndrome, associated with fibroblast growth factor receptor (FGFR) 2 mutations, is characterized by premature fusion of cranial sutures. We analyzed proliferation and differentiation of calvaria cells derived from Apert infants and fetuses with FGFR-2 mutations. Histological analysis revealed premature ossification, increased extent of subperiosteal bone formation, and alkaline phosphatas...
Management of the airway in Apert syndrome is complex and multidisciplinary. This rare syndrome, occurring in up to approximately 1 in 65,000 live births, results in airway compromise at various anatomic levels, in addition to abnormal central respiratory drive. Obstructive apneas arise because of decreased airway caliber, which may occur in the form of congenital bony nasal stenosis, choanal a...
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