Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network
Paediatric and Perinatal Epidemiology, EarlyView.ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman +23 more
wiley +1 more source
Aortic arch tortuosity with PHACE syndrome : a rare case scenario [PDF]
, 2016 PHACE syndrome is a rare neurocutaneous disorder characterised by an association of infantile haemangiomas with structural anomalies of brain, cerebral vasculature, eye, aorta and chest wall.1 Coarctation of aorta (COA) is most the common cardiac anomaly
Baidwan, A. +5 more
core +1 more source
Extubation Failure after Neonatal Cardiac Surgery: A Multicenter Analysis [PDF]
, 2017 Objectives To describe the epidemiology of extubation failure and identify risk factors for its occurrence in a multicenter population of neonates undergoing surgery for congenital heart disease.
Benneyworth, Brian D. +9 more
core +1 more source
Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk
Pediatric Blood &Cancer, Volume 73, Issue 2, February 2026.ABSTRACT Children with congenital heart disease (CHD) have elevated neuroblastoma (NB) risk, potentially due to shared neural crest origins. We analyzed rare exonic de novo single‐nucleotide variants in 702 CHD and 454 NB trios from the Neuroblastoma Epidemiology in North America Study, Gabriella Miller Kids First Program, and a published cohort. Seven
Ji Yun Tark +7 more
wiley +1 more source
THE PREVALENCE OF BIRTH DEFECTS AMONG NON-HISPANIC ASIANS AND AMERICAN INDIANS/ALASKA NATIVES IN TEXAS, 1999-2015 [PDF]
, 2019 Background: Birth defects are disproportionately higher among certain race/ethnic groups. We examined how birth defects prevalence differs among the less studied non-Hispanic (NH) Asian and any American Indian/Alaska Native (AI/AN) populations, relative ...
LE, VAN
core +1 more source
Changes in birth prevalence of hypoplastic left heart syndrome over the past half-century in Sweden [PDF]
, 2022 Wai Giang Kok +7 more
openalex +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 291-299, February 2026.ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley +1 more source
Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 329-338, February 2026.ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato +2 more
wiley +1 more source
Berlin Heart Ventricular Assist Device in a Child With Hypoplastic Left Heart Syndrome [PDF]
, 2007 Michael Chu +8 more
openalex +1 more source
Anesthesia for bilateral pulmonary banding as part of hybrid stage I approach palliating neonates with hypoplastic left heart syndrome [PDF]
, 2020 Thomas Zajonz +9 more
openalex +1 more source