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Noonan Syndrome (noonan + syndrome)

Distribution by Scientific Domains

Medical Sciences	84%
Life Sciences	15%

Selected Abstracts

Giant Cell Aortitis and Noonan Syndrome

CONGENITAL HEART DISEASE, Issue 4 2008
Shaji Menon MD
ABSTRACT An 18-year-old girl with Noonan syndrome was diagnosed with progressive aneurysmal dilatation of the ascending aorta. Histopathological examination revealed giant cell aortitis. Connective tissue abnormalities leading to aortic root dilatation and the sinuses of Valsalva aneurysm have been reported in Noonan syndrome. This report is the first description of giant cell aortitis in Noonan syndrome and may provide a link between aortic aneurysm, and giant cell granuloma of bone in Noonan syndrome. [source]

Granular Cell Tumor of the Scrotum in a Child with Noonan Syndrome

PEDIATRIC DERMATOLOGY, Issue 3 2008
M.R.C.P., M.R.C.P.C.H., Rachel U. Sidwell D.A.
Granular cell tumors most often arise on the tongue, but can occur at any body site, and therefore initial presentation to dermatologists is common. We report a granular cell tumor of the scrotum in a child with Noonan syndrome, known to have a mutation in the PTPN11 gene. No previous reports of granular cell tumor of the scrotum in a child are found. The tumor is usually benign; however, it can have a high local recurrence rate (variable between 2% and 50% dependent on whether initial excision is complete and on the occurrence of an infiltrative growth pattern) and therefore long-term follow-up is necessary. This case highlights the occurrence of granular cell tumor, a diagnosis not to be missed by the dermatologist. In addition, we postulate the possible role of PTPN11 mutations in the development of granular cell tumor. [source]

Noonan Syndrome and Scrotal Lymphedema: Primary or Secondary?

PEDIATRIC DERMATOLOGY, Issue 4 2006
NATALIA PASTOR M.D.
No abstract is available for this article. [source]

Giant Cell Aortitis and Noonan Syndrome

Genotype differences in cognitive functioning in Noonan syndrome

GENES, BRAIN AND BEHAVIOR, Issue 3 2009
E. I. Pierpont
Noonan syndrome (NS) is an autosomal-dominant genetic disorder associated with highly variable features, including heart disease, short stature, minor facial anomalies and learning disabilities. Recent gene discoveries have laid the groundwork for exploring whether variability in the NS phenotype is related to differences at the genetic level. In this study, we examine the influence of both genotype and nongenotypic factors on cognitive functioning. Data are presented from 65 individuals with NS (ages 4,18) who were evaluated using standardized measures of intellectual functioning. The cohort included 33 individuals with PTPN11 mutations, 6 individuals with SOS1 mutations, 1 individual with a BRAF mutation and 25 participants with negative, incomplete or no genetic testing. Results indicate that genotype differences may account for some of the variation in cognitive ability in NS. Whereas cognitive impairments were common among individuals with PTPN11 mutations and those with unknown mutations, all of the individuals with SOS1 mutations exhibited verbal and nonverbal cognitive skills in the average range or higher. Participants with N308D and N308S mutations in PTPN11 also showed no (or mild) cognitive delays. Additional influences such as hearing loss, motor dexterity and parental education levels accounted for significant variability in cognitive outcomes. Severity of cardiac disease was not related to cognitive functioning. Our results suggest that some NS-causing mutations have a more marked impact on cognitive skills than others. [source]

A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcoma

GENES, CHROMOSOMES AND CANCER, Issue 10 2010
Rob Hastings
No abstract is available for this article. [source]

Noonan syndrome with giant cell lesions

INTERNATIONAL JOURNAL OF PAEDIATRIC DENTISTRY, Issue 1 2006
J. De Lange
No abstract is available for this article. [source]

Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation

PEDIATRIC BLOOD & CANCER, Issue 6 2008
Rie Yoshida MD
Abstract Although Noonan syndrome (NS) is occasionally associated with embryonal solid tumors, there has been no report of hepatoblastoma in NS. We identified hepatoblastoma spreading into bilateral hepatic lobes in a 1-month-old NS patient with a heterozygous PTPN11 mutation (Asn308Asp). This finding suggests the potential relevance of constitutively activated RAS/MAPK signaling in the development of hepatoblastoma. Pediatr Blood Cancer 2008;50:1274,1276. © 2008 Wiley-Liss, Inc. [source]

Granular Cell Tumor of the Scrotum in a Child with Noonan Syndrome

Noonan syndrome and related disorders: a matter of dysregulated ras signalling

ACTA PAEDIATRICA, Issue 5 2009
Göran Annerén
No abstract is available for this article. [source]

A severe form of Noonan syndrome and autosomal dominant café-au-lait spots , evidence for different genetic origins

ACTA PAEDIATRICA, Issue 4 2009
Anna-Maja Nyström
Abstract Aim: The clinical overlap among Noonan syndrome (NS), cardio-facio-cutaneous (CFC), LEOPARD and Costello syndromes as well as Neurofibromatosis type 1 is extensive, which complicates the process of diagnosis. Further genotype,phenotype correlations are required to facilitate future diagnosis of these patients. Therefore, investigations of the genetic cause of a severe phenotype in a patient with NS and the presence of multiple café-au-lait spots (CAL) spots in the patient and four members of the family were performed. Methods: Mutation analyses of candidate genes, PTPN11, NF1, SPRED1 and SPRED2, associated with these syndromes, were conducted using DNA sequencing. Results: A previously identified de novo mutation, PTPN11 F285L and an inherited NF1 R1809C substitution in the index patient were found. However, neither PTPN11 F285L, NF1 R1809C, SPRED1 nor SPRED2 segregated with CAL spots in the family. The results indicate that the familial CAL spots trait in this family is caused by a mutation in another gene, distinct from previous genes associated with CAL spots in these syndromes. Conclusion: We suggest that the atypical severe symptoms in the index patient may be caused by an additive effect on the F285L mutation in PTPN11 by another mutation, for example the NF1 R1809C or alternatively, the not yet identified gene mutation associated with CAL spots in this family. [source]

Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients

CLINICAL ENDOCRINOLOGY, Issue 3 2008
Lize V. Ferreira
Summary Background, Mutations in the PTPN11 gene are the main cause of Noonan syndrome (NS). The presence of some NS features is a frequent finding in children with idiopathic short stature (ISS). These children can represent the milder end of the NS clinical spectrum and PTPN11 is a good candidate for involvement in the pathogenesis of ISS. Objective, To evaluate the presence of mutations in PTPN11 in ISS children who presented NS-related signs and in well-characterized NS patients. Patients and methods, We studied 50 ISS children who presented at least two NS-associated signs but did not fulfil the criteria for NS diagnosis. Forty-nine NS patients diagnosed by the criteria of van der Burgt et al.3 were used to assess the adequacy of these criteria to select patients for PTPN11 mutation screening. The coding region of PTPN11 was amplified by polymerase chain reaction (PCR), followed by direct sequencing. Results, No mutations or polymorphisms were found in the coding region of the PTPN11 gene in ISS children. Nineteen of the 49 NS patients (39%) presented mutations in PTPN11. No single characteristic enabled us to distinguish between NS patients with or without PTPN11 mutations. Conclusion, Considering that no mutations were found in the present cohort with NS-related signs, it is unlikely that mutations would be found in unselected ISS children. The van der Burgt et al. criteria are adequate in attaining NS diagnosis and selecting patients for molecular studies. Mutations in the PTPN11 gene are commonly involved in the pathogenesis of NS but are not a common cause of ISS. [source]

Improved final height with long-term growth hormone treatment in Noonan syndrome

ACTA PAEDIATRICA, Issue 9 2005
Deborah Osio
Abstract Aim: To assess whether children with Noonan syndrome on long-term growth hormone (GH) therapy improve their final height to near mid-parental height. Methods: Twenty-five prepubertal children (13 girls) with Noonan syndrome (NS) were studied. A single clinician made the diagnosis based on clinical criteria. GH treatment started at an age ranging from 3.1 to 13.8 y and was continued for at least 2 y. Improvement or "gain" in final height (FH) was defined as either the difference between adult height SD scores (SDS) and pre-treatment height SDS (the childhood component of the Swedish reference) or height SDS compared to the Noonan reference. Results: Ten children received a GH dose of 33 ,g/kg/d (mean age at start 7.7±2.1 y, mean age at stop 17.6±1.7 y) and 15 received a dose of 66 ,g/kg/d (mean age at start 8.6±3.3 y, mean age at stop 18.4±2.1 y). Eighteen out of 25 patients reached FH. A substantial improvement in FH of 1.7 SDS, equivalent to 10.4 cm compared to pre-treatment height, was observed. No significant difference was seen between the two GH doses. Females gained a mean height of 9.8 cm and males 1,13 cm (FH 174.5±7.8 cm vs mean adult height of 162.5±5.4 cm for males with NS) at final height. Moreover, 60% reached a mid-parental height of±1 SD. Conclusion: GH treatment improves final height in patients with Noonan syndrome, with a mean gain of 1.7 SDS. The prepubertal height gain is maintained to final height and the children achieve a height close to their mid-parental height. [source]

A new PTPN11 mutation in juvenile myelomonocytic leukaemia associated with Noonan syndrome

ACTA PAEDIATRICA, Issue 5 2005
Lisa Giovannini
No abstract is available for this article. [source]

Perinatal outcome in fetuses with extremely large nuchal translucency measurement

AUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 3 2009
Fergus SCOTT
Background: Studies have suggested that an entirely normal outcome is likely when the nuchal translucency (NT) measurement is very large and the karyotype, morphology and echocardiography scans are normal. Recently this has been questioned as it is based on very small numbers. Aim: Assess the outcome of pregnancies with an NT measurement of 6.5 mm or greater. Methods: Audit of a large first trimester screening program. Results: Over the ten years to 2006, 76 813 patients underwent first trimester screening, with 120 having an extremely large NT. Thirty-one cases had normal karyotypes, of which there were four sets of twins that demised. Six cases miscarried and ten were terminated, some with morphological abnormalities. Eight cases were still alive for the morphology scan, with the only abnormality being mild pyelectasis in one case. At birth, three cases were normal and another three cases had a good outcome. Two cases had coarctation of the aorta and a good outcome. One case had Noonan's syndrome, another had cerebral palsy and the case with pyelectasis had hydronephrosis, dilated ureters and some contractures. Conclusions: When the karyotype and morphology scan are normal, the outcome is often good in spite of an extremely large NT. However, even a subtle ultrasound anomaly can indicate a genetic syndrome and echocardiography cannot exclude mild cardiac abnormalities. [source]

Prenatal diagnosis of ductus venosus agenesis and its association with cytogenetic/congenital anomalies

PRENATAL DIAGNOSIS, Issue 11 2002
Paolo Volpe
Abstract Objectives We present an observational study of 12 cases of anomalies of the umbilical and portal vein systems associated with absence of the ductus venosus (DV) diagnosed over the past 5 years. The hemodynamic implications of each pattern of umbilico-portal system anomalies associated with absence of the DV have been investigated, as well as the frequency and types of associated anomalies and their embryological origin. Methods In all cases ultrasound, color Doppler, and cytogenetic investigations were performed. Results Four main patterns of abnormal venous circulation were documented: (1) the umbilical vein (UV) bypasses the liver and drains into the right atrium directly or through a dilated coronary sinus (three cases); (2) the UV bypasses the liver, with an infrahepatic or suprahepatic connection directly to the inferior vena cava (IVC) (two cases); (3) the UV bypasses the liver and drains directly into the iliac or renal veins (four cases); and (4) the UV drains directly into the portal veins (three cases). Among seven cases with other associated anomalies (58%), there were three cases of Turner's and Noonan's syndromes. Two fetuses and two neonates died and there were two terminations of pregnancy (TOP). Conclusions In utero diagnosis of ultrasound patterns associated with DV anomalies is feasible. Fetal karyotyping should be considered, serial ultrasound examinations recommended and, in the presence of heart failure, delivery can be anticipated. Copyright © 2002 John Wiley & Sons, Ltd. [source]