Results 31 to 40 of about 9,297 (176)

Prenatal Spectrum of COL2A1‐Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa, León‐Madero Luis Felipe, Jiménez‐Chaidez Salvador, Gallardo‐Gaona Juan Manuel, Rodríguez‐Sibaja María Jose, Castañeda‐de‐la‐Fuente Angelica, Del Castillo‐Reyes Katia Alejandra, Yañez‐Felix Ana Lucia, Morales‐Dominguez Valeria, Borboa‐Olivares Héctor Jesús, Sevilla‐Montoya Rosalba   +10 more
wiley   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

The Tutopatch® assisted surgery for complex strabismus study: TASCS‐study

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate the efficacy of tendon elongation using bovine pericardium (Tutopatch®) in complex strabismus surgeries, with a specific focus on longer follow‐up of postoperative outcomes and patient satisfaction. Methods In this pre‐post cohort study, the records of all patients who underwent tendon elongation strabismus surgery with ...
Ires A. W. Verhees, Hinke Marijke Jellema, Anne‐Marie E. L. Langenhorst, B. Jeroen Klevering, Laurentius J. van Rijn, Annabel L. W. Groot   +5 more
wiley   +1 more source

Bilateral branch pulmonary artery stenosis and Mitral valve prolapse in a patient with Noonan syndrome: A case report

Heart India, 2014
Rasopathy syndromes are a class of phenotypically similar, but genetically distinct multiple anomaly syndromes caused by germ line mutations in genes that encode protein components of the Ras/mitogen activated protein kinase (MAPK) pathway.
Meenakshi Kadiyala, Viswanathan Thangavelu, Kannan Radhakrishnan   +2 more
doaj   +1 more source

A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy

BMC Gastroenterology, 2020
Background Noonan syndrome is an autosomal dominant, variably expressed multisystem disorder characterized by specific facial and cardiac defects, delayed growth, ectodermal abnormalities, and lymphatic dysplasias.
Na Wang, Wen Shi, Yang Jiao
doaj   +1 more source

Tegumentary manifestations of Noonan and Noonan-related syndromes

Clinics, 2013
Noonan and Noonan-related syndromes are common autosomal dominant disorders with neuro-cardio-facial-cutaneous and developmental involvement. The objective of this article is to describe the most relevant tegumentary findings in a cohort of 41 patients with Noonan or Noonan-related syndromes and to detail certain aspects of the molecular mechanisms ...
Quaio, Caio Robledo D'Angioli Costa, Almeida, Tatiana Ferreira de, Brasil, Amanda Salem, Pereira, Alexandre C., Jorge, Alexander A. L., Malaquias, Alexsandra C., Kim, Chong Ae, Bertola, Debora Romeo   +7 more
openaire   +5 more sources

Effectiveness of Recombinant Human Growth Hormone Therapy in Small‐for‐Gestational‐Age Children With Short Stature: A Stratified Analysis Based on Genetic Variant Status

Clinical Endocrinology, EarlyView.
ABSTRACT Objective This study aimed to evaluate the impact of pathogenic genetic variants on growth outcomes following 3 years of recombinant human growth hormone (rhGH) therapy in children born small for gestational age with persistent short stature (SGA‐SS). Design A retrospective cohort study.
Sanghee Park, Yena Lee, Hwal Rim Jeong, Eun Young Kim, Eu‐seon Noh, Hye young Jin, Eun Byul Kwon, Hye Jin Lee, Young‐Jun Seo, Young Suk Shim, Su Jin Kim, Ji‐Eun Lee, Nan Young Kim, Sangkyoon Hong, Min Jae Kang, Il Tae Hwang   +15 more
wiley   +1 more source

NOONAN’S SYNDROME

Journal of V. N. Karazin Kharkiv National University: Series Medicine, 2016
The clinical case an adult patient with rare genetically heterogeneous disorder combine with congenital heart diseases and multiple stigmas of disembryogenesis, currently presenting mostly with signs of pulmonary hypertension have been reviewed. Patient is presented with definitive Noonan’s syndrome according scoring system of Van Der Burgt (has 2 ...
ZOLOTAROVA T.V., MAROUN B., HANAN S., MEHTIEVA F.B.   +3 more
openaire   +2 more sources

Genetic Spectrum of Non‐PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort

Clinical Genetics, EarlyView.
Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova, Olga Shatokhina, Daria Guseva, Nina Demina, Aleksander Polyakov, Oхana Ryzkova   +5 more
wiley   +1 more source

Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis

Clinical Case Reports, 2017
Key Clinical Message We report a case of Noonan syndrome with loose anagen hair (NS/LAH), a rare variant of Noonan syndrome, with associated trichorrhexis nodosa and trichoptilosis.
Jennifer Kane, Kristen Berrebi, Riley McLean, Stephanie Petkiewicz, Beverly Hay, Madelena Martin, Karen Wiss   +6 more
doaj   +1 more source