Results 1 to 10 of about 9,297 (176)

Noonan syndrome [PDF]

Orphanet Journal of Rare Diseases, 2007
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births.
van der Burgt Ineke
doaj   +7 more sources

Noonan syndrome [PDF]

Lancet, The, 2013
Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS-MAPK pathway ...
Marco Tartaglia, Bruce Gelb
exaly   +3 more sources

Optic nerve changes in PTPN11-related Noonan syndrome

Oman Journal of Ophthalmology
Characteristic features of Noonan syndrome include dysmorphic facies, short stature, and congenital cardiac defects. Pathogenic variants in PTPN11 are one of the common causes and may result in optic nerve head anomalies.
Tarek Saad Shoala, Linda M. Reis, Jenina Capasso, Elena Semina, Alex V. Levin   +4 more
doaj   +2 more sources

The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder

Orphanet Journal of Rare Diseases, 2023
Background Noonan syndrome spectrum disorders (NSSDs) constitute a group within the Rasopathies, and are one of the largest groups of syndromes with impact on multi-organ involvement known.
Dagmar K. Tiemens, Lotte Kleimeier, Erika Leenders, Ellen Wingbermühle, Renee L. Roelofs, Barbara Sibbles, Floor S.M. Oostwegel, Eva Vroonland, Conny van Leeuwen, Hanneke Niessen, Paul Sonnega, Anniek Duursma, Michel A. A. P. Willemsen, Jos M. T. Draaisma, Carina A.C.M. Pittens   +14 more
doaj   +1 more source

Recurrent labial xanthoma infection in a patient with Neurofibromatosis-Noonan syndrome: case report and literature review

Journal of Oral Medicine and Oral Surgery, 2022
Introduction: Noonan Syndrome is a clinically and genetically heterogeneous syndrome, characterized by marked phenotypic variability. All the clinical manifestations of this syndrome are still not fully known.
Dussueil Pauline, Sergent Jean-François, Veyssière Alexis, Benateau Hervé   +3 more
doaj   +1 more source

A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review

BMC Endocrine Disorders, 2021
Background Noonan syndrome is an inherited disease involving multiple systems. More than 15 related genes have been discovered, among which LZTR1 was discovered recently.
Xiu Zhao, Zhuoguang Li, Li Wang, Zhangzhang Lan, Feifei Lin, Wenyong Zhang, Zhe Su   +6 more
doaj   +1 more source

Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1‐associated Noonan syndrome: Expanding the phenotype and review of the literature

Molecular Genetics & Genomic Medicine, 2020
Background Noonan syndrome is an autosomal dominant disorder secondary to RASopathies, which are caused by germ‐line mutations in genes encoding components of the RAS mitogen‐activated protein kinase pathway.
Safwat A. Aly, Kenneth M. Boyer, Brie‐Ann A. Muller, Davide Marini, Carolyn H. Jones, Hoang H. Nguyen   +5 more
doaj   +1 more source

Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report

BMC Pediatrics, 2023
Background Noonan Syndrome is caused by variants in a variety of genes found in the RAS/MAPK pathway. As more causative genes for Noonan Syndrome have been identified, more phenotype variability has been found, particularly congenital heart defects. Here,
Claudia V. Aniol, Jeremy W. Prokop, Surender Rajasekaran, Spencer Pageau, Sydney K. Elizer, Elizabeth A. VanSickle, Caleb P. Bupp   +6 more
doaj   +1 more source

Electrocardiographic Changes with Age in Japanese Patients with Noonan Syndrome

Journal of Cardiovascular Development and Disease, 2023
Little information is available on age-related electrocardiographic changes in patients with Noonan syndrome. This single-center study evaluated the electrocardiograms of patients with Noonan syndrome. We divided the patients (n = 112; electrocardiograms,
Yasuhiro Ichikawa, Hiroyuki Kuroda, Takeshi Ikegawa, Shun Kawai, Shin Ono, Ki-Sung Kim, Sadamitsu Yanagi, Kenji Kurosawa, Yoko Aoki, Mari Iwamoto, Hideaki Ueda   +10 more
doaj   +1 more source

The first reported case of Noonan syndrome complicated with hepatocellular carcinoma

Clinical Case Reports, 2021
Noonan syndrome is a genetic multisystem disorder and is associated with mutation of genes encoding the proteins in the RAS‐MAPK pathway. We reported the first case of Noonan syndrome complicated with hepatocellular carcinoma.
Satoru Kakizaki, Daisuke Uehara, Hiroki Tojima, Takayoshi Suga, Yuichi Yamazaki, Ken Sato, Norio Kubo, Ken Shirabe, Takayuki Yokota, Kei Shibuya, Tatsurou Maehara, Hideaki Yokoo, Atsushi Naganuma, Toshio Uraoka   +13 more
doaj   +1 more source