Noonan syndrome.
نویسنده
چکیده
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.
منابع مشابه
سندرم نونان (گزارش یک مورد)
Noonan syndrome is a genetic condition inherited by an autosomally dominant manner, characterised by congenital heart disease, short stature, abnormal facies and the somatic feature of Turner's syndrome, but a normal karyotype. Noonan syndrome affects approximately 1 in 1500 live births. Congenital heart disease occurs in 35-50% of patients diagnosed with noonan syndrome. The most common cardia...
متن کاملAbnormal Auditory Brainstem Response (ABR) Findings in a Near-Normal Hearing Child with Noonan Syndrome
Introduction: Noonan syndrome (NS) is a heterogeneous genetic disease that affects many parts of the body. It was named after Dr. Jacqueline Anne Noonan, a paediatric cardiologist.Case Report: We report audiological tests and auditory brainstem response (ABR) findings in a 5-year old Malay boy with NS. Despite showing the marked signs of NS, the child could only produce a few meaningful words. ...
متن کاملAutistic disorder in Noonan syndrome.
Few reports have described the psychiatric co-morbidity of Noonan syndrome. While mental retardation is a common feature of Noonan syndrome, the diagnosis of autism using operational criteria has not been reported. In this paper, the authors describe the association of Noonan syndrome with autism. They propose that the co-morbid diagnosis of autism should be considered during the clinical asses...
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 gain-of-function mutations in NRAS cause zebrafish gastrulation defects
Noonan syndrome is a relatively common developmental disorder that is characterized by reduced growth, wide-set eyes and congenital heart defects. Noonan syndrome is associated with dysregulation of the Ras-mitogen-activated-protein-kinase (MAPK) signaling pathway. Recently, two mutations in NRAS were reported to be associated with Noonan syndrome, T50I and G60E. Here, we report a mutation in N...
متن کاملVaginal rhabdomyosarcoma in a patient with Noonan syndrome.
This is the first report of a Noonan syndrome patient who has had a vaginal rhabdomyosarcoma. Recent reports of Noonan syndrome patients with leukaemia have prompted speculation that there may be a slightly increased malignancy risk associated with this syndrome.
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ورودعنوان ژورنال:
- American journal of medical genetics. Part C, Seminars in medical genetics
دوره 145C 3 شماره
صفحات -
تاریخ انتشار 1987