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Results for “Noonan Syndrome”

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At least 19 recordsLinked to original sources
PubMed2025

Genotype-phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study.

BACKGROUND: Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) are neurodevelopmental conditions caused by genetic variants leading to upregulated signaling in the RAS-MAPK pathway. While previous research has focused on genetic variability in cognitive and cardiac phenotypes, behavioral phenotypes, and their correlations across genetic variants and within the PTPN11 gene remain poorly characterized. METHODS: This study included 121 individuals with NS (PTPN11: 88, SOS1: 18, RAF1: 6, KRAS: 2, RIT1: 3, NRAS: 2, LZTR1: 2, SOS2: 1) and seven individuals with NSML (PTPN11), compared to age- and sex-matched typically developing (TD) (N = 71). Behavioral questionnaires assessed social responsiveness and ASD-related traits (using SRS-2), and emotional problems (using CBCL) to identify genetic variant-specific behavioral profiles. Biochemical profiling of SHP2 activity in PTPN11-associated NS variants examined genotype-phenotype relationships. RESULTS: Compared to TD individuals, those with PTPN11-associated NS, NSML, and SOS1-associated NS exhibited clinically elevated scores, indicating increased ASD-related behaviors, poorer social functioning, and heightened emotional problems. Genetic variant comparisons revealed that individuals with PTPN11-associated NS and NSML exhibited greater ASD-related challenges than those with RAF1. Individuals with NSML exhibit elevated attention problems compared to all other genetic groups. Logistic regression results suggested each one-unit increase in SHP2 fold activation for PTPN11-associated NS corresponded to a 64% higher likelihood of markedly elevated restricted and repetitive behaviors, suggesting genotype-phenotype links. LIMITATIONS: Small sample sizes for rarer variants, leading to unequal group sizes across subgroups, with PTPN11 variants comprising most of the NS group. Future research should address these sampling constraints and conduct functional studies to clarify variant impacts. Longitudinal assessments could elucidate behavioral phenotype trajectories. CONCLUSIONS: This study underscores the importance of genetic variant-specific research to understand unique behavioral phenotypes in NS and NSML. Our findings indicate a higher risk for ASD-related symptoms in PTPN11-associated NS and NSML compared to other variants. Additionally, individuals with PTPN11-associated NS and higher SHP2 fold activation exhibited greater impairments in restricted and repetitive behaviors, suggesting SHP2 activation variations may contribute to phenotypic variability. By linking ASD-related symptoms to biochemical predictors in PTPN11-associated NS, this study may inform future targeted treatment approaches.

Humans↗
PubMed1979

Dizygosity of discordant twins with Noonan syndrome.

A pair of discordant twins, one of whom had Noonan syndrome, is reported. Most of the cardinal signs of Noonan syndrome were demonstrated by the affected twin. The etiology of the syndrome is briefly reviewed. The dizygosity of the twins was proved by ABO blood grouping and mixed lymphocyte reaction. The findings are interpreted as reasonably good evidence that genetic factors are the prime etiology in the pathogenesis of Noonan syndrome.

Adolescent↗
PubMed1977

Noonan syndrome with hypertrophic obstructive cardiomyopathy.

A case of a 20 years old female who had Noonan syndrome associated with obstructive cardiomyopathy was presented. It is well known that Noonan syndrome is frequently complicated with cardiac anomaly, and although no autopsies were performed two cases have been diagnosed clinically as Noonan syndrome accompanied with idiopathic cardiomyopathy in our country. The present case would be the first autopsied case in Japan of Noonan syndrome associated with idiopathic obstructive cardiomyopathy.

Adult↗
PubMed1975

Echocardiographic studies of left ventricular disease in Ullrich-Noonan syndrome.

Echocardiography has been used for cardiovascular evaluation of individuals and families with Ullrich-Noonan syndrome. Previously undiagnosed left ventricular disease has been found as a discrete lesion or in association with other cardiac abnormalities. This raises the estimated frequency of heart disease in the Ullrich-Noonan syndrome to about 50%. Since left ventricular disease in this syndrome may not be entirely typical of asymmetric septal hypertrophy, caution should be exercised in the echocardiographic diagnosis. To date, one notable difference between the echocardiograms in these patients and other patients with asymmetric septal hypertrophy is the absence of systolic anterior motion of the mitral valve. Since the most common cardiac lesion the the Ullrich-Noonan syndrome is pulmonary stenosis, the potential for septal thickening produced by severe pulmonary stenosis must also be taken into account.

Adolescent↗
PubMed1979

Lymphatic abnormalities in Noonan syndrome: A case report.

Lymphatic abnormalities are not generally recognized as part of the Noonan syndrome. A child with this condition in whom unique and widespread lymphatic abnormalities were demonstrated by lymphography is described. Both T and B lymphocytes were detected in chylous fluid drained from the thorax. In addition, the child was found to have a protein-losing enteropathy and cardiovascular defects. The clinical spectrum of the Noonan syndrome may include animalies of the lymphatic system.

Cardiac Catheterization↗
PubMedDate not supplied

[Noonan syndrome: differential diagnosis with Turner's syndrome].

Clinical and laboratory evidences assure an unequivocal identity to the syndrome described by Noonan. We believed that the terminology used by many authors has contributed to maintain confusion with Turner's syndrome from which it is clearly differenciated. The signology of both syndromes was confrontated in order to delineate the syndrome. Emphasis was made to point out the signs which are proper to each syndrome and the signs which are common to both of them stressing those that, occur with equal or significant difference. Two new signs are described in Noonan syndrome: alopecia of the hund portions of the eyebrows and keratosis rubra pilaris (Ulerythema ophriogenes).

Adolescent↗
PubMed1978

Noonan syndrome in an adult family presenting with chronic lymphedema.

A 27 year old man with multiple findings of the Noonan syndrome ("male Turner" phenotype) presented with chronic lymphedema which was also present in his mother. Noonan syndrome should be considered in the differential diagnosis of chronic or familial lymphedema.

Abnormalities, Multiple↗
PubMed1979

Asymmetric septal hypertrophy and propranolol treatment in a case of Ullrich-Noonan syndrome.

A 4-year-old boy with the Ullrich-Noonan syndrome is described. Asymmetric septal hypertrophy was diagnosed by echocardiography and confirmed at cardiac catheterisation. The aortic subvalvar gradient was reduced from 56 mmHg to 10 mmHg with intravenous propranolol. Relatives of patients with the syndrome should be screened by echocardiography in the hope that the early detection of asymmetric septal hypertrophy and its treatment with propranolol may reduce the likelihood of sudden death.

Aortic Valve Stenosis↗
PubMed1979

A child with Noonan syndrome.

The speech, language, and hearing characteristics of a child with Noonan syndrome are described in this report. The physical characteristics of this disorder are presented. Also included is a description of a pragmatic language analysis completed to provide a description of social-linguistic communication and a basis for treatment.

Child, Preschool↗
PubMed1978

Cutaneous manifestations of Noonan's syndrome.

Noonan's syndrome is a multisystem syndrome that has received little attention in the dermatologic literature, although there are numerous cutaneous manifestations that have been described. A typical case of Noonan's syndrome is presented. Clinical findings in this patient included short stature, curly scalp hair, prominent ears, hypertelorism, webbing of the neck, cubitus valgus, pigmented nevi, stasis dermatitis, and plantar hyperkeratosis. The latter two findings have not been previously reported in Noonan's syndrome. We urge that dermatologists become more aware of this syndrome to document the spectrum of changes that may occur in Noonan's syndrome.

Adult↗