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The clinical overlap between cardiac-urogenital syndrome, Meacham syndrome, and PAGOD syndrome. Report of a new patient with cardiac-urogenital syndrome.
Am J Med Genet A
June 2020
Serviço de Genética Médica, Centro Hospitalar Universitário de São João, Porto, Portugal.
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
Am J Med Genet A
July 2019
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
The myelin regulatory factor gene (MYRF) encodes a transcription factor that is widely expressed. There is increasing evidence that heterozygous loss-of-function variants in MYRF can lead to abnormal development of the heart, genitourinary tract, diaphragm, and lungs. Here, we searched a clinical database containing the results of 12,000 exome sequencing studies.
View Article and Find Full Text PDFPAGOD Syndrome is an acronym for lung and pulmonary arteries hypoplasia, agonadism, omphalocele / diaphragmatic defect and dextrocardia. A series of 21 patients is described, where 90.5% had a 46,XY karyotype and only two cases 46,XX; 66.
View Article and Find Full Text PDFHypoplastic left heart syndrome in PAGOD syndrome.
Pediatr Int
June 2014
Department of Pediatric Cardiology, Okinawa Children's Medical Center, Okinawa, Japan.
Chromosomal abnormalities as well as non-cardiac anomalies have been identified as independent risk factors for surgical morbidity and mortality in Fontan palliation. The combination of malformations consisting of pulmonary hypoplasia, agonadism (sex reversal), omphalocele, and diaphragmatic defect is compatible with pulmonary artery and lung hypoplasia, agonadism, omphalocele, and diaphragmatic defect (PAGOD). Most cases have been associated with cardiac disease, particularly hypoplastic left heart syndrome (HLHS) that is potentially destined for Fontan palliation.
View Article and Find Full Text PDF[Diaphragmatic defect, congenital heart disease, agonadism: a new case of PAGOD syndrome].
An Pediatr (Barc)
December 2014
Servicio de Cuidados Intensivos Pediátricos, Hospital Universitari Vall D'Hebron, Universitat Autònoma de Barcelona, Barcelona, España.
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