Noonan syndrome: A review

Mendez, Heirie M. M.; Opitz, John M.

doi:10.1002/ajmg.1320210312

Cited by 420 publications

(256 citation statements)

References 94 publications

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“…Equivalent degrees of freedom for (L, M, S) of height, weight, and BMI for males are (0, 12, 10) with age rescaled, (4, 9, 5) with age rescaled, and (3, 7, 4) with age transformed, respectively. Equivalent degrees of freedom for (L, M, S) of height, weight, and BMI for females are (0, 10, 7) with age rescaled, (4,11,5) with age rescaled, and (3, 6, 4) with age transformed, respectively. Supplementary Tables S1-S3 online provide values for L, M, and S of height, weight, and BMI by sex and age, …”

Section: Resultsmentioning

confidence: 99%

Growth references for Japanese individuals with Noonan syndrome

et al. 2015

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Background: Noonan syndrome (NS) is a clinically and genetically heterogeneous syndrome characterized by distinctive facial features, short stature, congenital heart diseases, and other comorbidities. NS-specific growth charts are essential for NS care, but currently no such charts are available for Asian populations. Methods:We conducted a nationwide survey by collaborating with three academic societies in Japan. We obtained the data of 356 clinically diagnosed NS subjects from 20 hospitals. The Lambda-Mu-Sigma method was used for establishing growth charts. results: A total of 308 subjects (males: 159 and females: 149) were analyzed after excluding 48 subjects because of missing auxological data (26 subjects), presence of complications affecting growth (5 subjects), and extreme longitudinal growth aberrations which lay more than three standard deviation scores from the mean in this population (17 subjects). Genetic analyses were performed in 150 patients (48.7%); 103 (68.7%) were reported to have some abnormalities in the known causative genes. Cardiovascular diseases were found in 256 patients (83.1%). The NS-specific height, weight, and BMI charts were constructed with 3,249 mixed longitudinal and cross-sectional measurements. conclusion: Growth standards for Japanese individuals with NS were established. These charts are expected to be used in various clinical settings.

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Section: Resultsmentioning

confidence: 99%

Growth references for Japanese individuals with Noonan syndrome

et al. 2015

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“…However, the presence of relative macrocephaly, coarse facial features, thick lobes, nasal papillomata, prominent lips, hyperextensible joints, loose skin in hands and feet, deep creases in palms and soles, and dark skin are all typical features of CS. Nevertheless, it should also be noted that our patient presented lymphedema and prominent corneal nerves, characteristics described in NS with a frequency of 20% (Mendez and Opitz 1985) and 40% (Bertola et al 2006) respectively, but not in CS.…”

Section: Discussionmentioning

confidence: 48%

Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene

Bertola

Pereira²,

Brasil

et al. 2007

J Hum Genet

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“…The syndrome can either be inherited from an affected parent or can occur spontaneously due to a random gene mutation. Although there have not been any systematic epidemiological studies on NS, this condition has been estimated to occur in approximately 1:1,000 to 1:2,500 live births (Mendez and Opitz 1985). Clinically, NS is associated with craniofacial characteristics including widely spaced eyes, ptosis, low set ears, low posterior hairline, and webbed neck .…”

Section: Introductionmentioning

confidence: 99%

Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

Pierpont

2015

J Pediatr Neuropsychol

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Noonan syndrome (NS) is a relatively common genetic syndrome with variable features including short stature, congenital heart disease, distinctive facial characteristics, skeletal anomalies, and varying degrees of developmental delay. NS is caused by gene mutations in a cellular signaling pathway that is essential for typical growth and development. Research in the past few decades has revealed that individuals with NS have highly variable neurocognitive and behavioral outcomes. To a certain extent, variability in cognitive functioning depends on the particular gene where a mutation is found; additionally, factors related to medical severity and environmental effects contribute substantially to outcomes. This article contains a systematic review of research on neuropsychological features of NS, including cognition, motor development, language, memory, attention, visual perception, adaptive behavior, social skills, and mental health concerns. Given the wide variety of possible cognitive and behavioral complications associated with NS, it is recommended that clinical neuropsychological evaluation of cognitive, adaptive, and psychological domains of functioning should be standard of care for all individuals with NS. Suggested considerations for assessment of individuals with NS are provided. The paper concludes with recommendations for educational and therapeutic interventions, as well as suggestions for future research directions.

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Noonan syndrome: A review

Cited by 420 publications

References 94 publications

Growth references for Japanese individuals with Noonan syndrome

Growth references for Japanese individuals with Noonan syndrome

Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene

Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

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