Polysyndactyly Cardiac Malformation Latest Advances

Intermittent dyspnoea unmasking an extremely rare constellation of congenital anomalies: cor triatriatum sinister, venous web-related pulmonary vein stenosis, meandering pulmonary vein, and Poland syndrome.

Journal: European heart journal

Published: May 18, 2026

Cornelia de Lange syndrome in an extremely low birth weight infant: a case report.

Journal: Fukushima journal of medical science

Published: April 26, 2026

Loss of POGLUT2/3-mediated O-glucosylation produces lung and aortic phenotypes reminiscent of fibrillin1 mutants.

Journal: Developmental dynamics : an official publication of the American Association of Anatomists

Published: December 26, 2025

Genetic Syndromes Associated With Congenital Upper Limb Differences.

Journal: The Journal of hand surgery

Published: September 27, 2025

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early-Onset Monogenic Disorders.

Journal: Prenatal diagnosis

Published: August 11, 2025

Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study.

Journal: Journal of cardiothoracic surgery

Published: August 08, 2025

KCNQ1 and GJA1 Variants Associated With Arrhythmogenic Right Ventricular Cardiomyopathy With a Lethal Outcome.

Journal: JACC. Case reports

Published: June 19, 2025

A pictorial essay of thoracic wall diseases: multiple pathologies in the same anatomical site.

Journal: Insights into imaging

Published: June 05, 2025

Poland Syndrome With Dextrocardia: A Rare Association Leading to Complex Cardiopulmonary Challenges.

Journal: Clinical case reports

Published: May 06, 2025

Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.

Journal: Dermatopathology (Basel, Switzerland)

Published: April 14, 2025

Evaluation of CACNA1C-Positive Patients Evaluated in a Tertiary Genetic Heart Rhythm Clinic.

Journal: Journal of cardiovascular translational research

Published: February 28, 2025

Disruptions in primary visual cortex physiology and function in a mouse model of Timothy syndrome.

Journal: Cerebral cortex (New York, N.Y. : 1991)

Published: December 20, 2024

Polysyndactyly Cardiac Malformation Latest Advances

Find the Latest Research About Polysyndactyly Cardiac Malformation

Intermittent dyspnoea unmasking an extremely rare constellation of congenital anomalies: cor triatriatum sinister, venous web-related pulmonary vein stenosis, meandering pulmonary vein, and Poland syndrome.

Intermittent dyspnoea unmasking an extremely rare constellation of congenital anomalies: cor triatriatum sinister, venous web-related pulmonary vein stenosis, meandering pulmonary vein, and Poland syndrome.

Cornelia de Lange syndrome in an extremely low birth weight infant: a case report.

Cornelia de Lange syndrome in an extremely low birth weight infant: a case report.

Loss of POGLUT2/3-mediated O-glucosylation produces lung and aortic phenotypes reminiscent of fibrillin1 mutants.

Loss of POGLUT2/3-mediated O-glucosylation produces lung and aortic phenotypes reminiscent of fibrillin1 mutants.

Genetic Syndromes Associated With Congenital Upper Limb Differences.

Genetic Syndromes Associated With Congenital Upper Limb Differences.

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early-Onset Monogenic Disorders.

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early-Onset Monogenic Disorders.

Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study.

Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study.

KCNQ1 and GJA1 Variants Associated With Arrhythmogenic Right Ventricular Cardiomyopathy With a Lethal Outcome.

KCNQ1 and GJA1 Variants Associated With Arrhythmogenic Right Ventricular Cardiomyopathy With a Lethal Outcome.

A pictorial essay of thoracic wall diseases: multiple pathologies in the same anatomical site.

A pictorial essay of thoracic wall diseases: multiple pathologies in the same anatomical site.

Poland Syndrome With Dextrocardia: A Rare Association Leading to Complex Cardiopulmonary Challenges.

Poland Syndrome With Dextrocardia: A Rare Association Leading to Complex Cardiopulmonary Challenges.

Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.

Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.

Evaluation of CACNA1C-Positive Patients Evaluated in a Tertiary Genetic Heart Rhythm Clinic.

Evaluation of CACNA1C-Positive Patients Evaluated in a Tertiary Genetic Heart Rhythm Clinic.

Disruptions in primary visual cortex physiology and function in a mouse model of Timothy syndrome.

Disruptions in primary visual cortex physiology and function in a mouse model of Timothy syndrome.