Results 111 to 120 of about 16,543 (245)

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1362-1371, June 2026.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

Polyhydramnios: An Update

Donald School Journal of Ultrasound in Obstetrics and Gynecology, 2007
Abstract Maternal, fetal or placental pathologies may result in an excessive amount of amniotic fluid (AF) volume. Therefore, the surveillance of the AF volume, predominantly by ultrasound, has become an important instrument for the assessment of fetal well-being.
Olav Lapaire, Wolfgang Holzgreve, Rosanna Zanetti-Daellenbach, Moffat Ecker Refecca, Hbsli Irene, Tercanli Sevgi   +5 more
openaire   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1378-1383, June 2026.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1273-1285, June 2026.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Floyd Type II Congenital Tracheal Agenesis in a Preterm Neonate: A Rare Case Report [PDF]

Indian Journal of Neonatal Medicine and Research
Tracheal agenesis is a rare and life-threatening airway malformation, and currently, there is no curative treatment available. The described case involves a preterm male newborn at 30 weeks of gestational age who could not be intubated during ...
Shikha Khandelwal, Priya Singh, Rama Anand, Ajay Dudeja, Varinder Singh   +4 more
doaj   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 993-1003, May 2026.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Rare Association of Absent Pulmonary Valve Syndrome with Double Outlet Right Ventricle and Hypoplastic Left Heart Complex [PDF]

, 2020
Arya, Bhawna, Buddhe, Sujatha, Chikkabyrappa, Sathish, Doshi, Arpan, Frandsen, Erik   +4 more
core   +2 more sources

High order multiple births in the Maltese population [PDF]

, 1992
Triplets are a relatively rare occurrence being encountered in the Maltese Islands with an overall incidence of about 0.1 per 1000 maternities. The incidence appears to be on the increase over the last twenty years rising from the 0.08 per 1000 ...
Savona-Ventura, Charles, Zammit, Anthony
core  

ATRÉSIA ESOFÁGICA: 10 ANOS DE EXPERIÊNCIA DE UM SERVIÇO DE CUIDADOS INTENSIVOS PEDIÁTRICOS [PDF]

, 2014
Background/Purpose: Oesophageal atresia (OA) is a congenital malformation with a variable prognosis. The aims were to establish OA’s incidence in the central region, to characterize infants with OA admitted and to compare its clinical outcome after ...
Dias, A., Lopes, M., Margatho, M., Neves, F., Pinho, L., Pinto, C.   +5 more
core  

Diagnostic dilemma of cystic biliary atresia: A series of two cases and brief review of the diagnostic modalities

JPGN Reports, Volume 7, Issue 2, Page 355-361, May 2026.
Abstract Cystic biliary atresia (CBA) is a rare variant of biliary atresia that closely resembles choledochal cyst (CC), complicating diagnosis and potentially delaying critical surgical intervention. We report two cases of CBA that were difficult to diagnose.
Hamza Hassan Khan, Leslie Hirsig Spence, Nagraj Kasi   +2 more
wiley   +1 more source