The Ullrich-Noonan Syndrome (Turner Phenotype)

Nora, James J.; Nora, Audrey H.; Sinha, Anil K.; Spangler, Richard D.; Lubs, Herbert A.

doi:10.1001/archpedi.1974.02110200050007

Cited by 147 publications

(121 citation statements)

References 21 publications

Supporting

Mentioning

106

Contrasting

Unclassified

Order By: Relevance

“…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

View full text Add to dashboard Cite

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.

show abstract

Section: Resultsmentioning

confidence: 99%

Growth references for Japanese individuals with Noonan syndrome

et al. 2015

View full text Add to dashboard Cite

show abstract

“…1 Although the prevalence of these clinically related developmental disorders has not been determined accurately to date, NS is thought to be relatively common. 2 The overlapping clinical features among these disorders and the wide spectrum of phenotypes within each trait, associated with the absence of consensus on routinely used diagnostic criteria, make diagnosis of NCFCS quite challenging. 1,3 The diagnosis of such disorders is particularly difficult to perform in utero and in the first years of life, as most features manifest later during childhood.…”

Section: Introductionmentioning

confidence: 99%

Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes

et al. 2014

View full text Add to dashboard Cite

Variants in 11 genes of the RAS/MAPK signaling pathway have been causally linked to the neuro-cardio-facio-cutaneous syndromes group (NCFCS). Recently, A2ML1 and RIT1 were also associated with these syndromes. Because of the genetic and clinical heterogeneity of NCFCS, it is challenging to define strategies for their molecular diagnosis. The aim of this study was to develop and validate a massive parallel sequencing (MPS)-based strategy for the molecular diagnosis of NCFCS. A multiplex PCR-based strategy for the enrichment of the 13 genes and a variant prioritization pipeline was established. Two sets of genomic DNA samples were studied using the Ion PGM System: (1) training set (n ¼ 15) to optimize the strategy and (2) validation set (n ¼ 20) to validate and evaluate the power of the new methodology. Sanger sequencing was performed to confirm all variants and low covered regions. All variants identified by Sanger sequencing were detected with our MPS approach. The methodology resulted in an experimental approach with a specificity of 99.0% and a maximum analytical sensitivity of Z98.2% with a confidence of 99%. Importantly, two patients (out of 20) harbored described disease-causing variants in genes that are not routinely tested (RIT1 and SHOC2). The addition of less frequently altered genes increased in E10% the diagnostic yield of the strategy currently used. The presented workflow provides a comprehensive genetic screening strategy for patients with NCFCS in a fast and cost-efficient manner. This approach demonstrates the potential of a combined MPS-Sanger sequencing-based strategy as an effective diagnostic tool for heterogeneous diseases.

show abstract

“…Among some of those patients this association of congenital anomalies appears to be quite an unusual finding, such as high incidence of PDA in Noonan syndrome, 25 the increased incidence of single ventricle in trisomy 21, 27 and the combination of hypoplastic pulmonary artery with mitral regurgitation in the two patients with rubella syndrome. 26 These findings warrant further investigation and more attention to tricuspid and mitral valves in this disease.…”

Section: Complicationsmentioning

confidence: 94%

“…This is an unusually high occurrence of PDA in this syndrome. 25 Rubella syndrome was seen in 16 of 103 (16 percent). The majority of the patients had PDA, ASD, or VSD with PS or peripheral PS (PPS).…”

Section: Associated Anomaliesmentioning

confidence: 99%

Cardiac Catheterization in the Young:Experience at King Faisal Specialist Hospital and Research Centre

Mardini

1983

Ann Saudi Med

View full text Add to dashboard Cite

To determine the incidence and pattern of heart diseases and to evaluate the technique and results of cardiac catheterizations at King Faisal Specialist Hospital and Research Centre, data on 591 children who underwent 620 catheterizations during 1976 to 1981 were reviewed. Congenital heart disease was found in 82 percent and acquired heart disease in 18 percent. Rheumatic heart disease accounted for 96 percent of acquired heart disease. The incidence of rheumatic heart disease declined from 21 percent between 1976 and 1980 to 3 percent in 1981. Among the congenital diseases, ventricular septal defect was the most common lesion (20 percent), followed by pulmonary stenosis (12 percent), patent ductus arteriosus (10 percent), tetralogy of Fallot (8 percent), and single ventricle (8 percent). The marked incidence of single ventricle in this series is quite striking when compared with the experience of others. Complex cyanotic congenital heart disease was found in 16 percent. Of the patients with congenital heart disease, 21 percent had one or more types of noncardiac congenital defects. Femoral venous or arterial percutaneous catheterization was successful in 97 percent and the saphenous cut-down technique was required only in 3 percent. Palliative or corrective cardiovascular surgery was carried out in 97 percent. Only 3 percent were found to be inoperable; 2 percent were late referrals and had irreversible obstructive pulmonary vascular disease secondary to longstanding left-to-right shunts, and the other 1 percent had inadequate anatomy for any type of surgery. Minor and transient complications occurred in 3 percent of the total catheterized group and mortality was 0.3 percent.MK Mardini,

show abstract

The Ullrich-Noonan Syndrome (Turner Phenotype)

Cited by 147 publications

References 21 publications

Growth references for Japanese individuals with Noonan syndrome

Growth references for Japanese individuals with Noonan syndrome

Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes

Cardiac Catheterization in the Young:Experience at King Faisal Specialist Hospital and Research Centre

Contact Info

Product

Resources

About