title: Congenital lymphatic dysplasia in Kabuki syndrome: first report of an unusual association.
abstract: Kabuki syndrome was first described in Japan in 1981 as a rare disorder of unknown cause. Its main features include characteristic facies, postnatal growth retardation, and mental delay. To date, there is no molecular marker for Kabuki syndrome, which is considered genetically heterogeneous and still is a clinically-based diagnosis. Here we describe the first case of a patient affected by Kabuki syndrome associated with lymphatic dysplasia. We suggest accurate evaluation of all Kabuki patients as early as possible in order to diagnose lymphedema or other clinical manifestations of lymphatic system involvement. Early identification of lymphatic system maldevelopment provides the best chance for reducing the risk of developing progressive lymphedema with associated tissue changes (fibrosis, sclerosis, and fat deposition).
authors: Department of Pediatrics, University of Genoa, Gaslini Children's Hospital, Italy. gmorcaldi@fastwebnet.it
authors: G
authors: G
authors: Morcaldi
authors: F
authors: F
authors: Boccardo
authors: C
authors: C
authors: Campisi
authors: T
authors: T
authors: Bellini
authors: D
authors: D
authors: Massocco
authors: E
authors: E
authors: Bonioli
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D005145:Face / Q000002:abnormalities; D006402:Hematologic Diseases / Q000150:complications / Q000175:diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D008209:Lymphedema / Q000150:complications* / Q000151:congenital / Q000175:diagnosis; D013577:Syndrome; D015837:Vestibular Diseases / Q000150:complications / Q000175:diagnosis