Noonan Syndrome

Allanson, Judith

doi:10.1002/9780470893159.ch38

Cited by 5 publications

(22 citation statements)

References 87 publications

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“…Noonan syndrome (NS) is a worldwide reported genetic disorder with an autosomal dominant inheritance pattern that was first described by Noonan and Ehmke () and further elaborated upon by Noonan () and Noonan and O'Connor (). The prevalence of NS is estimated to be between 1 in 1000 and 1 in 2500 live births (Allanson ; Mendez & Opitz ; Noonan ). Although clinical features may vary, NS is typically characterised by mild facial dysmorphisms including hypertelorism, ptosis, strabismus, downslanting palpebral fissures, low‐set ears and a broad and sometimes webbed neck.…”

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confidence: 99%

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Cognitive functioning of adults with Noonan syndrome: a case–control study

Wingbermühle

Roelofs

Burgt³

et al. 2012

Genes Brain and Behavior

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Noonan syndrome (NS) is a genetic disorder characterised by short stature, facial dysmorphia, congenital heart defects and mildly lowered intellectual abilities. Research has mainly focused on genetic and somatic aspects, while intellectual and cognitive functioning has been documented scarcely. Also, to date studies have been primarily performed in children. This is the first study in which functioning within the major cognitive domains is systematically evaluated in a group of adults with NS and compared with a control group. Extensive neuropsychological assessment, including the domains intelligence, speed of information processing, memory (working memory, immediate recall and delayed recall), executive function and visuoconstruction, was performed in a sample of 42 patients with NS and 42 healthy controls, matched on age, sex and education level. In addition, subjective cognitive complaints were assessed with self-report questionnaires. On the domain speed of information processing patients performed worse than controls (P < 0.05). Furthermore, except for slightly better results on delayed recall in the patients with NS (P < 0.05), none of the other cognitive domains showed between-group differences. On the questionnaires, patients reported substantially more complaints about their own cognitive abilities than controls (P < 0.05). A lowered speed of information processing and relatively intact functioning in other cognitive domains characterises the cognitive profile of adult patients, in contrast to previous findings in children with NS, who seem to have more generalised cognitive deficits.

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confidence: 99%

“…Mutations in the PTPN11 gene are most common, accounting for over 50% of the cases. As the disorder is caused by germline mutations, it is inheritable (Allanson ). In 60% of the cases, mutations occur spontaneously ( de novo ) (Fakouri & Fakouri ; Shaw et al .…”

mentioning

confidence: 99%

Cognitive functioning of adults with Noonan syndrome: a case–control study

Wingbermühle

Roelofs

Burgt³

et al. 2012

Genes Brain and Behavior

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“…GH therapy was started after molecular testing and after correction of the heart defect in cases 1 and 2, with periodic reevaluation every 6 months, according to literature data (2,22). GH therapy was contraindicated in case 3 due to severe scoliosis.…”

Section: Methodsmentioning

confidence: 99%

“…Chest deformity (superior pectus carinatum and inferior pectus excavatum), with wide spaced and low set nipples is also very suggestive, especially if associated with short/ webbed neck (2). Cubitus valgus and scoliosis are frequently found (1).…”

Section: Clinical Featuresmentioning

confidence: 99%

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Genotype – Phenotype Correlations in Noonan Syndrome

Rusu¹

2014

Acta Endo (Buc)

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Our study aimed to evaluate clinical, endocrine and genetic aspects in three patients with Noonan syndrome and to establish genotype -phenotype correlations. Noonan syndrome is a frequent autosomal dominant disorder, characterized by distinctive facial features, short stature, congenital heart defects, unusual chest shape, broad/ webbed neck, cryptorchidism and developmental delay. GH therapy initiated early adds 1 SD to final adult height. We have identified common features that are very suggestive for the diagnosis, as well as the changing of facial aspect in time. In case 2 we recorded a milder phenotype than expected for KRAS mutations. In case 3 we identified new features (severe scoliosis and ventricular septal defect) as well as more severe clinical features than expected for SOS 1 mutations. We have detected particular patterns of growth in our patients before and after GH therapy. Unlike literature data, our PTPN11 mutation positive child reacted very well to GH, whereas our KRAS mutation positive case started to gain Ht only after 3 years of GH therapy. We have recorded hypertrophic scars either as a new feature of NS, or as a possible adverse event of GH therapy. GH therapy was successful in our patients, without classical adverse events recorded. Somatotropic axis dysfunction is discussed.

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