Results 51 to 60 of about 9,297 (176)

Co‐occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death

Clinical Case Reports, 2018
Key Clinical Message We report a case of a neonate with Noonan syndrome presenting with concurrent hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia, which resulted in premature death.
Akihiro Tamura, Suguru Uemura, Kousaku Matsubara, Eru Kozuki, Toshikatsu Tanaka, Nanako Nino, Takehito Yokoi, Atsuro Saito, Toshiaki Ishida, Daiichiro Hasegawa, Ikumi Umeki, Tetsuya Niihori, Yozo Nakazawa, Kenichi Koike, Yoko Aoki, Yoshiyuki Kosaka   +15 more
doaj   +1 more source

Sublingual hematoma after autogenous block grafting to the anterior mandible in a patient with Noonan Syndrome

Oral and Maxillofacial Surgery Cases, 2019
Noonan Syndrome is an autosomal dominant congenital syndrome that is a multisystem disorder, commonly presenting with craniomaxillofacial, cardiac, and hematologic differences.
C. Michael Tsai, Srinivas M. Susarla, Andrew J. Pittaway, Mark A. Egbert   +3 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Eosinophilic gastroenteritis in a 14-year-old patient with Noonan syndrome with a PTPN11 variation: a case report

Journal of Medical Case Reports
Background Noonan syndrome has a wide range of symptoms due to dysregulation of the RAS/MAPK pathway with several gene variations, including the PTPN11 gene. There are currently no case reports of Noonan syndrome with eosinophilic gastroenteritis. Case A
Nobuhiko Koga, Shuichi Yatsuga, Kei Kubota, Toshikazu Niimi, Takahito Inoue, Shinichiro Nagamitsu   +5 more
doaj   +1 more source

Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene

Human Genomics, 2023
Background Mutations in NF1 gene could cause allelic disorders with clinical spectrum of Neurofibromatosis type 1 to Noonan syndrome. Here, a 7-year-old Iranian girl is described with Neurofibromatosis-Noonan syndrome due to a pathogenic variant in NF1 ...
Setila Dalili, Seyyedeh Azade Hoseini Nouri, Reza Bayat, Shahin Koohmanaee, Manijeh Tabrizi, Marjaneh Zarkesh, Alireza Tarang, Nejat Mahdieh   +7 more
doaj   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

A rare association of a high grade glioblastoma, cerebral abscess and acute lymphoblastic leukemia in a child with Noonan syndrome

Leukemia Research Reports
Noonan syndrome is a genetic disorder frequently caused by PTPN11 mutations. Patients with Noonan syndrome are characterized by facial dysmorphism, short stature and congenital heart defects and they have a reported predisposition to malignancies such as
Wiem Boufrikha, Rim Rakez, Inaam Bizid, M.Maher Hadhri, Manel Njima, Sarra Boukhris, M.Adnene Laatiri   +6 more
doaj   +1 more source

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

SAGE Open Medical Case Reports, 2020
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
Mana Koike, Tsuyoshi Tajika, Takuro Kuboi, Fumitaka Endo, Hirotaka Chikuda   +4 more
doaj   +1 more source

Increased Risk of Sarcomas in Children With Congenital Anomalies: Findings From the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Registry Linkage Study

Pediatric Blood &Cancer, Volume 73, Issue 8, August 2026.
ABSTRACT Background Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated. Procedure We
Russ Wolters, Ji Yun Tark, Tiffany M. Chambers, Tania A. Desrosiers, Michael E. Scheurer, Charles Shumate, Wendy N. Nembhard, Mahsa M. Yazdy, Eirini Nestoridi, Amanda E. Janitz, Jean Paul Tanner, Russell S. Kirby, Jason L. Salemi, Yao Yu, Chad D. Huff, Sharon E. Plon, Philip J. Lupo, Jeremy M. Schraw   +17 more
wiley   +1 more source

Common variable immunodeficiency in a patient with Noonan syndrome

Alergologia Polska
Noonan syndrome is a disease that occurs in 1 in 1,000–2,500 live births, mostly inherited in an autosomal dominant manner. Noonan syndrome is a clinically and genetically heterogeneous disease that may be accompanied by growth retardation, prominent ...
Öner Özdemir, Ümmügülsüm Dikici, Ece Tüsüz Önata, Recep Polat   +3 more
doaj   +1 more source