Voice Characteristics of Children with Noonan Syndrome
نویسندگان
چکیده
منابع مشابه
Cervical characteristics of Noonan syndrome.
BACKGROUND/OBJECTIVES A short neck and low posterior hairline are characteristics of Noonan syndrome (NS) and are hallmarks of basilar invagination/impression. However, it is seldom that NS has been directly linked with this symptom. Thus, this study aimed to investigate basilar impression in NS subjects compared with control subjects and individuals exhibiting Turner Syndrome (TS). SUBJECTS/ME...
متن کاملThe language phenotype of children and adolescents with Noonan syndrome.
PURPOSE This study presents an analysis of language skills in individuals with Noonan syndrome (NS), an autosomal dominant genetic disorder. We investigated whether the language impairments affecting some individuals arise from deficits specifically within the linguistic system or whether they are associated with cognitive, perceptual, and motor factors. Comparisons of language abilities among ...
متن کاملPragmatic language impairment in children with Noonan syndrome
Noonan syndrome (NS) is a disorder causing symptoms like short stature, characteristic facial features, congenital heart disease, possible mental retardation and pragmatic difficulties. This study describes the pragmatic skills in NS and discusses the linguistic profile of 17 informants aged 6-15 years, by comparing the participants' scores on the Children's Communication Checklist, 2nd Edition...
متن کاملHotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome.
OBJECTIVE To test for PTPN11 mutations in clinically diagnosed cases of Noonan syndrome. METHODS 17 individuals with clinical diagnosis of Noonan syndrome were included in the study. Sanger sequencing of all the 15 exons of PTPN11 was done. A genotype-phenotype correlation was attempted. RESULTS Mutation in PTPN11 was detected in 11 out of 17 (64.7%) patients with Noonan syndrome; 72% had m...
متن کاملNoonan syndrome.
Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits.
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ژورنال
عنوان ژورنال: Turkiye Klinikleri Journal of Medical Sciences
سال: 2014
ISSN: 1300-0292,2146-9040
DOI: 10.5336/medsci.2013-35466