title: Yunis-varon syndrome: further delineation of cardiovascular and endocrine outcome.
abstract: Yunis-Varon syndrome is a rare autosomal recessive condition initially characterized by specific skeletal and ectodermal abnormalities, and a poor prognosis, due to neurological and cardiovascular involvement. We describe the cardiovascular and endocrine complications in a 26-year-old man who had been reported previously, adding dilated cardiomyopathy to the clinical features consistent with Yunis-Varon syndrome. Short stature, successfully treated with growth hormone, and hypertension secondary to bilateral renal artery stenosis expand the phenotype.
authors.affiliation: Cardiovascular Unit, Division of Medicine, John Hunter Hospital, New Lambton, NSW, Australia.
authors.forename: P
authors.initials: P
authors.lastname: Varghese
authors.forename: N
authors.initials: N
authors.lastname: Collins
authors.forename: G
authors.initials: G
authors.lastname: Warner
authors.forename: J
authors.initials: J
authors.lastname: Leitch
authors.forename: E
authors.initials: E
authors.lastname: Ho
authors.forename: P
authors.initials: P
authors.lastname: Crock
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D018376:Cardiovascular Abnormalities / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002973:Cleidocranial Dysplasia / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics; D004562:Electrocardiography; D004700:Endocrine System Diseases / Q000151:congenital / Q000175:diagnosis; D057238:Growth Charts; D006801:Humans; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008844:Micrognathism / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D013902:Radiography, Thoracic
keywords: Yunis-Varon syndrome; cardiomyopathy; growth hormone