Results 71 to 80 of about 9,216 (232)

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang, Christina Jacobsen, Jennifer Arnold, Ronald J. Wapner, Deborah Krakow   +4 more
wiley   +1 more source

Ranula vs. Atypical Sublingual Branchial Cleft Cyst: A Case Report

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Congenital cystic lesions in the floor of the mouth in infants present significant diagnostic challenges owing to overlapping clinical and radiological features. We report a rare case of a one‐year‐old boy with a gradually enlarging, painless left sublingual swelling noticed since birth. Clinical examination revealed a soft, fluctuant 3 × 4 cm
Saleh Mohebbi, Fatemeh Abedin, Sahar Zahedi, Mehdi Abrishami   +3 more
wiley   +1 more source

Effective Role of Oral Sildenafil in the Treatment of Cystic Hygroma in an Infant: A Case Report [PDF]

Indian Journal of Neonatal Medicine and Research
Cystic hygroma is a benign congenital malformation of the lymphatic system. Most cystic hygromas are found in the neck; rarer locations include the axilla, mediastinum, and limbs.
Sumit Jeena, Atul londhe, Amol Joshi, LS Deshmukh   +3 more
doaj   +1 more source

Increased incidence of cytogenetic abnormalities in chorionic villus samples from pregnancies established by in vitro fertilization and embryo transfer (IVF-ET) [PDF]

, 1995
We studied 201 pregnancies that were established by in vitro fertilization and embryo transfer (IVF–ET) and compared the frequency of cytogenetic abnormalities with that found in a large control population matched for indication group (advanced maternal ...
Berg, C.D.F. (Cardi) van den, Brandenburg, H. (Helen), Jahoda, M.G. (M.), Los, F.J., Ooijen, M. (M.) van, Pijpers, L. (Leendert), Stijnen, Th. (Theo), Van Opstal, A.R.M. (Diane), Veld, P.A. (Peter) in't   +8 more
core   +1 more source

Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counseling

Journal of Genetic Counseling, Volume 35, Issue 2, April 2026.
Abstract The clinical application of prenatal exome sequencing (pES) for fetal structural anomalies is relatively new. Although a prenatal genetic diagnosis has been shown to have high clinical and personal utility for families, nearly 70% of pregnancies undergoing pES will receive nondiagnostic results.
Sophie Albert, Anne Swenerton, Kirsten M. Niles, Sylvie Langlois, Jessica L. Zambonin   +4 more
wiley   +1 more source

Hypertrophic Cardiomyopathy as a Key Feature of MRAS‐Related Noonan Syndrome: New Case and Comprehensive Literature Review

Prenatal Diagnosis, Volume 46, Issue 4, Page 581-588, April 2026.
ABSTRACT Noonan syndrome (NS) is a rare multisystemic condition among the RASopathy group, characterized by a broad phenotypic spectrum and genetic variability. It results from pathogenic variants in genes regulating the RAS/MAPK pathway, affecting cell proliferation and differentiation.
Romain Martineau, Constance Wells, Florent Fuchs, Sophie Collardeau‐Frachon, Valentin Ruault, Sophie Colomb, Jean‐Michel Faure, Caroline Bartholmot, Marie Vincenti, Benjamin Ganne, Marjolaine Willems   +10 more
wiley   +1 more source

Prenatal diagnosis of idic(9) [PDF]

, 2015
Tetrasomy of the short arm of chromosome 9 is a rare chromosome imbalance that may result from a supernumerary isochromosome 9 with the most recurrent breakpoints being 9p10, 9q12 and 9q13.
Correia, H., Cravo, J., Furtado, J., Marques, B., Mourinha, V., Páramos, A.I., Silva, M., Simão, L., Ventura, C.   +8 more
core  

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

An approach to familial lymphoedema. [PDF]

, 2017
Lymphoedema is the build-up of lymphatic fluid leading to swelling in the tissues. Most commonly it affects the peripheries. Diagnosis is based on clinical assessment and imaging with lymphoscintigraphy. Treatment is supportive with compression garments,
Atton, Brice, Joyce, Keppler-Noreuil, Stemmer   +4 more
core   +1 more source

The Blue Delirium: Serotonin and Anticholinergic Toxicity in a 95‐Year‐Old Woman

Journal of the American Geriatrics Society, EarlyView.
Camila S. Badell, Kathleen Brodowski, Eloy F. Ruiz, Eric Tien Yen Chyn   +3 more
wiley   +1 more source