title: Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.
abstract: Koolen-de Vries syndrome (KdS) is a rare genetic condition characterized by typical facial dysmorphisms, cardiac and renal defects, skeletal anomalies, developmental delay, and intellectual disability of variable level. It is caused by a 440-680-kb deletion in the 17q21.31 region, encompassing CRHR1, MAPT, IMP5, STH, and KANSL1, or by an intragenic KANSL1 mutation. The majority of the patients reported are pediatric or young adults, and long-term studies able to define the prognosis of the disease are lacking. Here, we report a patient in the fourth decade misdiagnosed in the past as classical Ehlers-Danlos syndrome for the presence of generalized joint hypermobility, who carried a 546-kb deletion in 17q21.31, and compare his phenotype with those of the few KdS adults (aged >18 years) described so far. We observed a favorable prognosis of epilepsy and cardiovascular signs and reduction of joint hypermobility with age, thus providing insight into the natural history of the disorder.
authors.affiliation: Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Ciaccio
authors.forename: Chiara
authors.initials: C
authors.lastname: Dordoni
authors.forename: Marco
authors.initials: M
authors.lastname: Ritelli
authors.forename: Marina
authors.initials: M
authors.lastname: Colombi
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D000293:Adolescent; D000328:Adult; D000375:Aging / Q000502:physiology; D002648:Child; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D057210:Delayed Diagnosis; D002658:Developmental Disabilities / Q000235:genetics; D003951:Diagnostic Errors; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis / Q000235:genetics; D004827:Epilepsy / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011379:Prognosis; D055815:Young Adult