History of Noonan Syndrome and Related Disorders

2008 ◽  
pp. 1-8
Author(s):  
J.A. Noonan
Keyword(s):  
Noonan Syndrome ◽  
History Of

Juvenile papillomatosis of the breast in a male infant with Noonan Syndrome, café au lait spots, and family history of breast carcinoma

2005 ◽  
Vol 45 (7) ◽  
pp. 991-993 ◽  
Author(s):  
Maurizio Pacilli ◽  
Neil James Sebire ◽  
Elmo Thambapillai ◽  
Agostino Pierro
Keyword(s):  
Family History ◽  
Breast Carcinoma ◽  
Noonan Syndrome ◽  
Male Infant ◽  
Café Au Lait Spots ◽  
History Of

scholarly journals The natural history of Noonan syndrome: a long-term follow-up study

2006 ◽  
Vol 92 (2) ◽  
pp. 128-132 ◽  
Author(s):  
A C Shaw ◽  
K Kalidas ◽  
A H Crosby ◽  
S Jeffery ◽  
M A Patton
Keyword(s):  
Natural History ◽  
Noonan Syndrome ◽  
Follow Up Study ◽  
Long Term Follow Up ◽  
History Of

scholarly journals Spontaneous Keloids: A Literature Review

Dermatology ◽  
2018 ◽  
Vol 234 (3-4) ◽  
pp. 127-130 ◽  
Author(s):  
Abdulhadi Jfri ◽  
Ali Alajmi
Keyword(s):  
Literature Review ◽  
Noonan Syndrome ◽  
Case Series ◽  
Medical Conditions ◽  
Bethlem Myopathy ◽  
History Of ◽  
Patient’S History ◽  
Dubowitz Syndrome ◽  
Single Lesion

Background: Keloids are benign fibroproliferative tumors that extend beyond the original wound. Spontaneous keloids are those that result without a significant history of trauma. There are multiple reported cases in the literature. Objective: This article provides a summary and review of the cases that have been reported with spontaneous keloids and organizes them according to their associated medical conditions. Methods: A literature review was conducted using PubMed and MEDLINE that included all English published cases and case series from May 1955 to February 2018. Results: Spontaneous keloids have been reported mainly in association with syndromes such as Rubinstein-Taybi syndrome, Dubowitz syndrome, Noonan syndrome, Goeminne syndrome, Bethlem myopathy, conjunctivocorneal dystrophy, X-linked recessive polyfibromatosis and a novel X-linked syndrome with flamin A mutation. Furthermore, spontaneous keloids were reported in atopic patients and a couple of patients who are medically healthy. Conclusion: Spontaneous keloids are diagnosed clinically based on the patient’s history, and it is challenging to confirm since they might be triggered by minimal injury or inflammation especially if it is a single lesion. Reported syndromes indicate a genetic possibility in the pathogenesis of spontaneous keloids.

scholarly journals Transcatheter closure of atrial septal defect in a patient with Noonan syndrome after corrective surgery

2015 ◽  
Vol 72 (6) ◽  
pp. 557-560 ◽  
Author(s):  
Ljupco Mangovski ◽  
Mihajlo Farkic ◽  
Ljiljana Jovovic
Keyword(s):  
Cardiac Surgery ◽  
Atrial Septal Defect ◽  
Noonan Syndrome ◽  
Septal Defect ◽  
Transcatheter Closure ◽  
Late Complication ◽  
Surgical Closure ◽  
Patient Reported ◽  
History Of ◽  
Asd Closure

Introduction. Transcatheter atrial septal defect (ASD) closure is considered to be a gold standard for patients with the suitable anatomy as compared to cardiac surgery. Reocurrence of ASD after surgical closure is a very rare late complication which can be successfully managed with transcatheter procedure. Case report. We reported a female patient with Noonan syndrome who presented with hemodinamically significant ASD 37 years after the corrective cardiac surgery. Due to numerous comorbidities which included severe kyphoscoliosis, pectus excavatum and multiple surgeries we decided to perform transcatheter closure of ASD. The procedure itself was very challenging due to the patient?s short stature and heart?s orientation in the chest, but was performed successfully. The subsequent follow-up was uneventful and the patient reported improvement in the symptoms. Conclusion. Transcatheter closure of ASD in a patient with Noonan syndrome with the history of surgically corrected ASD can be performed successfully, despite challenging chest anatomy.

Text Structure Strategy for Expository Reading Comprehension: Case Study With an Adolescent With Noonan Syndrome

2021 ◽  
pp. 1-11
Author(s):  
Shannon Hall-Mills ◽  
Leesa Marante
Keyword(s):  
Reading Comprehension ◽  
Noonan Syndrome ◽  
Text Comprehension ◽  
Intervention Program ◽  
Expository Text ◽  
Language Disorder ◽  
Text Structure ◽  
Language And Literacy ◽  
History Of

Purpose This article describes the implementation of a text structure strategy approach to reading comprehension intervention to improve comprehension of expository texts for an adolescent with Noonan Syndrome and a history of developmental language disorder and reading disability. Method The text structure intervention program was created for a feasibility study with adolescents who have language and literacy disorders. In the present case study, we investigated whether it was possible to improve expository text comprehension in a client with Noonan Syndrome and a history of significant needs in literacy. The text structure program leveraged the participant's progressive knowledge and awareness of specific text structures and structure signal words for improved comprehension of compare-contrast texts. The participant attended 60-min sessions twice weekly for three weeks at a university clinic. Results The participant demonstrated an increase in signal word identification as well as compare-contrast text comprehension. Conclusions This preliminary case study demonstrates that a short-term, explicit text structure strategy intervention is feasible for treatment of reading comprehension difficulties. This study also provides support for future text structure research with adolescent language and literacy deficits secondary to medical complexities.

scholarly journals RARE-55. RIT1 MUTATION ASSOCIATED WITH SPINAL NEUROFIBROMATOSIS

2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi233-vi233
Author(s):  
Mark Anderson ◽  
Nawal Shaikh ◽  
Eugene Long ◽  
Joseph Maher
Keyword(s):  
Noonan Syndrome ◽  
Mapk Pathway ◽  
Genetic Disorders ◽  
Neurofibromatosis Type ◽  
African American Female ◽  
Ras Pathway ◽  
Nerve Sheath Tumors ◽  
Café Au Lait Spots ◽  
History Of

Abstract Neurofibromatosis type 1 is defined clinically and molecularly by the presence of a mutation in neurofibromin, resulting in typical cutaneous, peripheral nerve and nerve root neurofibromas through the changes in regulation of the RAS pathway. A 33-year-old right-handed African-American female presented with a complaint of back pain, radiating down the legs and arms worsening over several years. On physical exam, the patient had no cutaneous neurofibromas, café-au-lait spots, or axillary freckling. MRI spine revealed diffuse symmetric fusiform nerve sheath tumors throughout the cervical, thoracic, and lumbar spine favored to represent neurofibromatosis. Genetics evaluation with pedigree revealed no family history of genetic disorders. Genetic testing was positive solely for a c.293A >G transition in exon 5 of the RIT1 gene, previously reported as a cause of the RASopathy Noonan syndrome, type-8. RASopathies are conditions caused by mutations in the proteins of the RAS-MAPK pathway. Noonan Syndrome can present with some combination of abnormalities of the ears, webbing of the neck, developmental delay, and cardiac abnormalities. This patient was without external phenotypic characteristics of Noonan Syndrome, yet was found to have a mutation in this pathway. RIT1 mutation has been previously described rarely with glioma development. Alternate mutations in the RAS-MAPK pathway should be considered in the differential for patients with spinal neurofibromatosis when typical neurofibromatosis mutations are absent.

scholarly journals A Pediatric Patient With Noonan Syndrome and Late Onset Unilateral Lymphedema

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A694-A695
Author(s):  
Liliana Burdea ◽  
Roxana L Aguirre
Keyword(s):  
Growth Hormone ◽  
Physical Therapy ◽  
Lower Extremity ◽  
Emergency Room ◽  
Noonan Syndrome ◽  
Late Onset ◽  
Laboratory Evaluation ◽  
Gh Therapy ◽  
History Of ◽  
The Right

Abstract Introduction: Noonan syndrome is a common autosomal dominant disorder with a prevalence of 1 in 1000-2500 births. The lymphatic disorders in Noonan syndrome are rare and usually bilateral. We present a 14-year-old male with Noonan syndrome and late-onset unilateral lower extremity lymphedema. Case presentation: A 14-year-old male with Noonan syndrome due to a pathogenic mutation in the RIT1 gene (c.265T>C p.Tyro89His) presented to emergency room due to progressive swelling of the right lower extremity. No history of recent trauma or injury. He had a history of small mid-muscular ventricular septal defect (VSD), chylothorax with right-sided pleural effusions during infancy, sensorineural hearing loss with bilateral hearing aids, and undescended testes status post-surgery. He had been on growth hormone (GH) therapy since age 12 years with good adherence and no reported side effects. In the emergency room, initial laboratory evaluation and Doppler ultrasound ruled out deep venous thrombosis. Physical exam was remarkable for edema of the right lower extremity, warm to touch, with erythema, not painful. Due to initial concerns for cellulitis, the patient was treated with antibiotics. Erythema improved but not the edema. Cardiac evaluation including echocardiogram with stable, unchanged VSD was unremarkable. Patient underwent additional workup notable for an albumin level of 4.4g/dl (3.4-5.0), Immunoglobulin (Ig) A 53 mg/dl (66-436), IgG 788 mg/dl (791-1643), IgM 82 mg/dl (43-279) and a stool alpha antitrypsin level of 0.65 mg/g (0.0-0.5) ruling out protein-losing enteropathy (PLE). Growth hormone was held initially and restarted after 2 months due to clinical improvement, but just for one week due to worsening swelling. Lymphoscintigraphy of lower extremities showed an asymmetry between the right and left leg in the transit, suggesting a mild lymphatic abnormality in the right leg. There was a significant improvement in terms of his lymphedema with physical therapy and compressive stocking after 6 months. He has been off growth hormone therapy since then. Discussion: Patients with Noonan syndrome may develop lymphedema and PLE, although findings are usually bilateral. Interestingly our patient has unilateral lymphedema that has been improving with compression stocks and physical therapy. Our patient was on GH therapy for 2 years before he developed lymphedema and although growth hormone causes water retention, we would not expect a selective involvement as in our patient. Based on his history of chylothorax we decided to perform a Lymphoscintigraphy that confirmed an abnormality in the lymphatic system of the right lower extremity. The effect of GH once restarting pointed it was a precipitating factor instead of the cause. Late-onset lymphedema is an uncommon presentation but should be a diagnosis that we have to keep in mind when patients with Noonan syndrome are presenting with edema.

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