Results 71 to 80 of about 103,828 (259)

Prevalence and Patterns of Congenital Heart Defects and Other Major Non-Syndromic Congenital Anomalies Among Down Syndrome Patients: A Retrospective Study

International Journal of General Medicine
Biniam Endale Geleta, Girma Seyoum Department of Anatomy, Addis Ababa University, Addis Ababa, EthiopiaCorrespondence: Biniam Endale Geleta, Email benjaminbig12@gmail.comBackground: Children with DS are at higher risk of developing congenital anomalies ...
Geleta BE, Seyoum G
doaj  

Congenital midline cervical cleft

Journal of Pediatric Surgery Case Reports, 2018
Congenital midline cervical cleft (CMCC) is a very rare congenital malformation of the neck. Although its embryologic origin is uncertain, the most widely accepted embryologic defect is impaired midline fusion of the distal branchial arches. We present a
Ahmed Abdelghaffar Helal, Barakat Abdlreheem Mahmoud   +1 more
doaj   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR‐Gene Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

An Extremely Rare Case Report of Aphallia with Horseshoe Kidney and Ureterohydronephrosis

International Medical Case Reports Journal, 2023
Tigabu Daniel,1 Yonas Abera2 1Surgery Department, Hawassa University, Hawassa, Ethiopia; 2Surgery Department, Ethiopian Defense University, Addis Ababa, EthiopiaCorrespondence: Tigabu Daniel, Email danieltigabu96@gmail.comBackground: Aphallia (absent ...
Daniel T, Abera Y
doaj  

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

American Journal of Medical Genetics Part A, EarlyView.
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

A Rare Case of Right Retrocaval Ureter with Duplication of Infrarenal IVC

Case Reports in Radiology, 2014
Retrocaval ureter, also known as circumcaval ureter, is a rare congenital anomaly which commonly presents with loin pain in middle age group. Here, ureter passes between the inferior vena cava (IVC) and psoas muscle and gets compressed.
Anees Dudekula, Sonali D. Prabhu
doaj   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Revisiting paravertebral muscles in European rabbits (Oryctolagus cuniculus) and European brown hares (Lepus europaeus) (Leporidae; Lagomorpha)

The Anatomical Record, EarlyView.
Abstract Domesticated European rabbits (Oryctolagus cuniculus) have long been chosen as laboratory model organisms. Despite this, there has been no definitive study of the vertebral musculature of wild rabbits. Relevant descriptions of well‐studied veterinary model mammals (such as dogs) are generally applicable, but not appropriate for a species ...
Nuttakorn Taewcharoen, Emma Sherratt, Philip Stott, Rachel Norris   +3 more
wiley   +1 more source