Results 41 to 50 of about 9,224 (129)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Health Care Utilization in Adults With Congenital Heart Disease: Population‐Based Findings

Birth Defects Research, Volume 118, Issue 6, June 2026.
ABSTRACT Background Population‐based data on healthcare utilization in adults with congenital heart disease (CHD) are limited. We examined utilization patterns in a multi‐site, population‐based U.S. cohort of adults with CHD. Methods This retrospective cohort linked health and administrative records from five regions (Colorado, North Carolina, Utah ...
Tessa L. Crume, Amber D. Khanna, Alexandra Tillman, George K. Lui, Aida S. Soim, Daphne T. Hsu, Kristin Sommerhalter, Anaclare Sullivan, Jennifer S. Li, Alfred D′Ottavio II, Wendy M. Book, Cheryl Raskind‐Hood, Kevin Whitehead, Nelangi Pinto, Marcia L. Feldkamp, Matthew R. Reeder, Sergey Krikov, Lorenzo D. Botto   +17 more
wiley   +1 more source

Varicocelectomy Restores Spermatogenesis in Fontan‐Associated Varicocele: A Two‐Case Series

IJU Case Reports, Volume 9, Issue 4, July 2026.
ABSTRACT Introduction Fontan circulation may cause chronic venous hypertension and predispose patients to varicocele and infertility, but the clinical significance of surgical treatment remains unclear. Case Presentation We describe two patients with Fontan circulation who developed Fontan‐associated varicocele (FAVC).
Yusuke Tominaga, Tomoko Kobayashi, Yuko Matsumoto, Takatoshi Moriwake, Nariaki Ozaki, Takuya Sadahira, Satoshi Katayama, Shingo Nishimura, Kensuke Bekku, Motoo Araki   +9 more
wiley   +1 more source

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, Volume 46, Issue 7, Page 1122-1129, June 2026.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

A case of severe Ebstein's anomaly with incompetent pulmonary valve

The Turkish Journal of Pediatrics, 2002
A case of Ebstein's anomaly with functional pulmonary atresia diagnosed in utero is presented. The diagnosis was confirmed by postnatal echocardiographic, angiographic, and postmortem pathologic findings.
Süheyla Ozkutlu, Naci Ceviz, Canan Ayabakan, Zuhal Akçören   +3 more
doaj  

Maternal Fish Intake in the Year Prior to Conception and Birth Defects, National Birth Defects Prevention Study, 1997–2011

Birth Defects Research, Volume 118, Issue 5, May 2026.
ABSTRACT Background Epidemiologic data on the association between maternal fish intake and birth defects are sparse. Our objective was to assess associations between maternal fish intake and 52 different birth defects, most of which have not been assessed previously.
Dorothy Kim Waller, Zeyu Miao, Renata H. Benjamin, Richard Finnell, Nithya Lakshmi Mohan Dass, Eirini Nestoridi, Marcia C. de Oliveira Otto, Julie Peterson, Tunu Ramadhani, Mark A. Canfield, the National Birth Defects Prevention Study   +10 more
wiley   +1 more source

Double-outlet left ventricle. Echocardiographic diagnosis

Arquivos Brasileiros de Cardiologia, 2001
This is a case report of a double-outlet left ventricle associated with tricuspid atresia and hypoplasia of the right ventricle, diagnosed during echocardiography with color-flow imaging, in a three-month-old child who presented with fatigue and cyanosis.
Lilian Maria Lopes, Paula Iamac Nomura de Rangel, Angela Maria Broglio Soraggi, Beatriz Helena Sanches Furlanetto, Gláucio Furlanetto   +4 more
doaj   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Left atrium mass in an infant with complex cyanotic congenital heart disease

Journal of the Indian Academy of Echocardiography & Cardiovascular Imaging, 2018
The clinical and echocardiographic findings in a 3-month-old cyanotic infant with congestive cardiac failure are described with stress on segmental approach to diagnosis.
Ishita Banerji
doaj   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 914-923, May 2026.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source