Japanese Circulation Journal · 1998 · 55 citations · 11 references
This report presents a 54-year-old woman with Goldenhar syndrome featuring an epibulbar dermoid, left microtia and a left preauricular appendage, and synostosis of the vertebrae. Multiple cardiovascular malformations including Wolff-Parkinson-White syndrome, a partial anomalous pulmonary venous connection, patent ductus arteriosus, an anomalous origin of the coronary arteries, and a right-sided descending aorta were revealed by electrocardiography, echocardiography and cardiac catheterization. Goldenhar syndrome is very rare, but the frequency of cardiovascular malformations in this syndrome is 5-58%. It is necessary to perform a careful evaluation of general malformations, especially cardiovascular malformations.
11
The Axial Mesodermal Dysplasia Spectrum
Laura Russell, David D. Weaver, Marilyn J. Bull · PEDIATRICS · 1981 · 139 citations
Caudal Regression Syndrome, Neurological Disorder, Diagnosis +16
Axial mesodermal dysplasia spectrum
Definitions · 2020 · 137 citations · Full text
Developmental Anomaly, Ophthalmology, Caudal Regression Syndrome +14