scholarly journals Primary pulmonary lymphangiectasia in Noonan syndrome: apropos of an extremely rare manifestation and a brief literature review

2020 ◽  
Vol 90 (4) ◽  
Author(s):  
Georgia-Emmanuela Dendrinou ◽  
Panagiotis Zagarelos ◽  
Angelos Sofronas ◽  
Stamatis Katsenos
Keyword(s):  
Noonan Syndrome ◽  
Learning Difficulties ◽  
Facial Features ◽  
Chest Imaging ◽  
Multisystem Disorder ◽  
Lymphatic Malformations ◽  
Renal Anomalies ◽  
Diagnostic Aspects ◽  
Rare Manifestation ◽  
Pulmonary Lymphangiectasia

Noonan syndrome (NS) is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, bleeding difficulties and lymphatic malformations. Although lymphatic dysplasias are present in 20% of patients with NS, however pulmonary lymphangiectasia has rarely been described. In this present paper, we report a 24-year-old male who was diagnosed with Noonan syndrome and primary pulmonary lymphangiectasia by using chest imaging modalities. A brief overview of the current literature is also provided laying emphasis on the clinical, pathogenetic and diagnostic aspects of this uncommon Noonan syndrome complication.

scholarly journals The first reported case of Noonan syndrome complicated with hepatocellular carcinoma.

2021 ◽  
Author(s):  
Satoru Kakizaki ◽  
Daisuke Uehara ◽  
Hiroki Tojima ◽  
Takayoshi Suga ◽  
Yuichi Yamazaki ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Noonan Syndrome ◽  
Congenital Heart ◽  
Mapk Pathway ◽  
Facial Features ◽  
Multisystem Disorder ◽  
First Case ◽  
Genes Encoding

Noonan syndrome is a genetic multisystem disorder characterized by distinctive facial features, developmental delay, congenital heart disease, and other conditions. It is associated with mutation of genes encoding the proteins in the RAS-MAPK pathway, including PTPN11. We herein describe the first case of Noonan syndrome complicated with hepatocellular carcinoma.

An Atypical Presentation of Alagille Syndrome

2017 ◽  
Vol 21 (1) ◽  
pp. 79-83 ◽  
Author(s):  
Katherine Y Wu ◽  
Amanda L Treece ◽  
Pierre A Russo ◽  
Jessica W Wen
Keyword(s):  
Case Report ◽  
Bile Duct ◽  
Early Onset ◽  
Alagille Syndrome ◽  
Facial Features ◽  
Atypical Presentation ◽  
Multisystem Disorder ◽  
Pathologic Findings ◽  
Bile Duct Damage ◽  
Subsequent Identification

Alagille syndrome is a multisystem disorder classically involving the liver, heart, vertebrae, facial features, and the eyes. In this case report, we document a case of Alagille syndrome with an atypical clinical and histopathologic presentation and subsequent identification of a novel JAG1 missense mutation. This case highlights that there may be both atypical clinical and pathologic findings in mutation-proven Alagille syndrome and that the diagnosis of Alagille syndrome should be considered in cases of ongoing bile duct damage in the setting of early-onset jaundice, cholestasis, hepatosplenomegaly, posterior embryotoxon in the eyes, and butterfly vertebrae.

scholarly journals Cubital tunnel syndrome in Noonan syndrome secondary to hypoplasia of the humeral trochlea

2020 ◽  
Vol 8 ◽  
pp. 2050313X2093064
Author(s):  
Mana Koike ◽  
Tsuyoshi Tajika ◽  
Takuro Kuboi ◽  
Fumitaka Endo ◽  
Hirotaka Chikuda
Keyword(s):  
Noonan Syndrome ◽  
Cognitive Deficit ◽  
Autosomal Dominant ◽  
Cubital Tunnel Syndrome ◽  
Medial Epicondyle ◽  
Cubital Tunnel ◽  
Multisystem Disorder ◽  
Anatomical Features ◽  
Peripheral Compression ◽  
Tunnel Syndrome

This report describes the case of a 45-year-old woman with Noonan syndrome who developed cubital tunnel syndrome secondary to hypoplasia of the humeral trochlea. Cubital tunnel syndrome, the second-most common peripheral compression neuropathy, is caused by compression of the ulnar nerve at the elbow. Noonan syndrome, an autosomal dominant multisystem disorder, is characterized by variable cognitive deficit and skeletal, ectodermal and hematologic anomalies. Results show three distinctive anatomical features such as (1) hypoplasia of the humeral trochlea and medial epicondyle, (2) absence of the medial intermuscular septum and (3) lack of Osborn’s ligament.

Oral manifestations of Alagille syndrome

2020 ◽  
Vol 13 (5) ◽  
pp. e234689
Author(s):  
Anne-Laure Bonnet ◽  
Victor Greset ◽  
Tiphaine Davit-Beal
Keyword(s):  
Bone Development ◽  
Alagille Syndrome ◽  
Future Research ◽  
Facial Features ◽  
Multisystem Disorder ◽  
Ocular Abnormalities ◽  
Tooth Abnormalities ◽  
Physiological Pathways ◽  
Variable Phenotype

Alagille syndrome (AGS) is a multisystem disorder classically involving liver and heart failure, characteristic vertebral and facial features and ocular abnormalities. AGS is caused by heterozygous mutations in JAG1 or NOTCH2, with variable phenotype penetrance. We report two cases of AGS in children with tooth defects characterised by green discolouration and hypomineralisation. The role of hyperbilirubinaemia (HB) in this atypical colour, a classical feature of AGS, has been well described. However, it does not totally explain the dental phenotype. As JAG1 and NOTCH2 mutations can affect bone development and considering common physiological pathways between bone and tooth mineralisation, both mutations could participate in this unusual dental phenotype. The role of HB and genetics in the development of the dental phenotype of AGS is discussed in two prototypical cases. Future research should focus on the underlying genetic component of tooth abnormalities.

Noonan Syndrome Complicated by Primary Pulmonary Lymphangiectasia

2015 ◽  
Vol 34 (2) ◽  
pp. 117-125 ◽  
Keyword(s):  
Noonan Syndrome ◽  
Genetic Disorder ◽  
Diagnosis And Treatment ◽  
Atypical Presentation ◽  
Pleural Effusions ◽  
Radiographic Features ◽  
Pulmonary Lymphangiectasia

AbstractNoonan syndrome is a genetic disorder that has several features common to other conditions, making diagnosis a challenge. This column summarizes the case of a neonate with an atypical presentation of Noonan syndrome involving a fatal type of lymphangiectasia resulting in persistent pleural effusions. Radiographic features of this condition are presented along with the complexities of diagnosis and treatment.

scholarly journals Effectiveness of Planned Teaching on Knowledge Regarding Noonan Syndrome among Nursing Students

2021 ◽  
pp. 709-713
Author(s):  
Pragati Alnewar ◽  
Seema Singh ◽  
Vaishali Tembhare
Keyword(s):  
Nursing Students ◽  
Nursing Care ◽  
Noonan Syndrome ◽  
Mapk Pathway ◽  
Demographic Variable ◽  
Leadership Role ◽  
Research Approach ◽  
Knowledge Level ◽  
Multisystem Disorder ◽  
Post Test

Background: Noonan syndrome is a genetic multisystem disorder characterized by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformation and bleeding difficulties, mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS-MAPK pathway, leading to pathway dysregulation. estimated prevalence of Noonan syndrome 1 in 1000-2500. Nursing student having insufficient knowledge regarding Noonan syndrome most responders perceive serious deficiencies in their preparation to care such patients As genetic advances increasingly impact nursing care, nurses are expected to have necessary knowledge to interpret genetic and genomic information and technology with translation into nursing care. The aim of the study is to aware a future nurse for Noonan syndrome, carrying the role of counsellor, care manager and teacher for patient and their families’ nurses will have an opportunity to expand as well as to create new leadership role in health care. Therefore, the development of educational program for nursing knowledge is essential for future nurses. Objectives: To assess the existing knowledge level regarding Noonan Syndrome among Basic B.Sc. nursing students. To evaluate the effectiveness of planned teaching on knowledge regarding Noonan syndrome among Basic B.Sc. nursing students. To associate posttest knowledge score with selected demographic variable. Materials and Methods: A one group pre-test and post-test design was adopted to assess the existing knowledge level regarding Noonan Syndrome among Basic B.Sc. nursing students. In this study, evaluatory research approach will be used. convenient sampling technique will be used to collect data.  Pre-test will be conducted to assessed primarily for the existing knowledge level regarding Noonan Syndrome among Basic B.Sc. nursing students. And then planned teaching on Noonan syndrome will be given to selected sample by researcher as intervention. Post-test outcomes involve evaluation of effectiveness of planned teaching. Expected Results: This study is planned to assess the effectiveness of planned teaching on knowledge regarding Noonan syndrome among nursing students. Conducting planned teaching will be effective for improving knowledge of the respondents.

Williams Syndrome

PEDIATRICS ◽  
1989 ◽  
Vol 84 (5) ◽  
pp. 922-923
Author(s):  
FRANK GREENBERG
Keyword(s):  
Aortic Stenosis ◽  
Williams Syndrome ◽  
Behavioral Phenotype ◽  
Point Of View ◽  
Supravalvular Aortic Stenosis ◽  
Facial Features ◽  
Multisystem Disorder

How we have come to an understanding of Williams syndrome as a multisystem disorder is reminiscent of the seven blind men and the elephant. Cardiologists such as Williams et al and Beuren described the cardiovascular manifestations of the condition, particularly supravalvular aortic stenosis, in 1961. Earlier, Fanconi et al and others reported cases of idiopathic hypercalcemia of infancy primarily from an endocrinologic point of view. In 1963, Black and Carter described the association of the two conditions with a set of dysmorphic facial features which, unfortunately, has been labeled `elfin' facies. The syndrome was described further in the 1970s by Jones and Smith. In 1978, because of the work of Bennett et al, the behavioral phenotype began to become known.

scholarly journals Effective Palliation of Intractable Bleeding from Noonan Syndrome-associated Lymphatic Malformations by Radiotherapy

2015 ◽  
Vol 95 (8) ◽  
pp. 1009-1010 ◽  
Author(s):  
B Baumann ◽  
K MacArthur ◽  
M Rosenbach ◽  
J Miller ◽  
E Ben-Josef
Keyword(s):  
Noonan Syndrome ◽  
Lymphatic Malformations

scholarly journals A Chinese Family with Noonan Syndrome Associated with a Heterozygous LZTR1 Mutation

2020 ◽  
Author(s):  
Xiu Zhao ◽  
Li Wang ◽  
Zhangzhang Lan ◽  
Feifei Lin ◽  
Wenyong Zhang ◽  
...  
Keyword(s):  
Noonan Syndrome ◽  
Autosomal Recessive ◽  
Gene Mutations ◽  
Hormone Deficiency ◽  
Chinese Family ◽  
Inheritance Pattern ◽  
Multisystem Disorder ◽  
Dominant Form ◽  
Autosomal Dominant Form ◽  
Complex Inheritance

Abstract Background Noonan syndrome (NS) is a multisystem disorder resulting from pathogenic mutations in more than 15 genes, among which LZTR1 is newly discovered. However, its role in NS pathogenesis remains unclear, including its inheritance pattern. Methods We herein report a family with LZTR-related NS. We collected clinical data of the proband and her families. Four of them completed the whole exon sequencing. Results Two children with NS inherited the same heterozygous LZTR1 variant, c.1149 + 1G > T, from their affected mother. Moreover, the proband was diagnosed as NS accompanied by growth hormone deficiency (GHD) without other associated gene mutations. Conclusion The variant c.1149 + 1G > T of LZTR1 was previously reported in autosomal recessive NS, but this is the first report of an autosomal dominant form. Our reported cases provided evidence for a more complex inheritance pattern resulting from LZTR1 c.1149 + 1G > T mutation. Occasionally, NS patients can have GHD.

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