Cardiomyopathy with renal anomalies in two siblings: a new recessive syndrome?
We describe two male siblings affected by cardiomyopathy and genitourinary tract abnormalities. One of them also had dysgenesis of the corpus callosum. They were born to nonconsanguineous, phenotypically normal parents. This association appears to be a new entity and may suggest a new autosomal or X-linked recessive syndrome.
Leask
Kathryn M
KM
Academic Unit of Medical Genetics and Regional Genetic Service, St Mary's Hospital, Hathersage Road Department of Paediatric Cardiology, Royal Manchester Children's Hospital, Hospital Road, Pendlebury, Manchester, UK.
Kerr
Bronwyn
B
Ladusans
Ed
E
D000328:Adult; D061085:Agenesis of Corpus Callosum; D009202:Cardiomyopathies / Q000235:genetics / Q000473:pathology*; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive; D050172:Genes, X-Linked; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008297:Male; D009421:Nervous System Malformations / Q000235:genetics / Q000473:pathology*; D035781:Siblings; D013577:Syndrome; D014564:Urogenital Abnormalities / Q000235:genetics / Q000473:pathology*