Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature.

TitleAtypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature.
Publication TypeJournal Article
Year of Publication2004
AuthorsGeneviève D, Amiel J, Viot G, Le Merrer M, Sanlaville D, Urtizberea A, Gérard M, Munnich A, Cormier-Daire V, Lyonnet S
JournalAmerican journal of medical genetics. Part A
Volume129A
Issue1
Pagination64-8
Date Published2004 Aug 15
Abstract

Kabuki syndrome (KS) is a rare multiple congenitali anomalyi/mental retardation syndrome with an estimated frequency of 1/32,000 in Japan. Five major criteria delineate KS namely postnatal short stature, skeletal anomalies, moderate mental retardation, dermatoglyphic anomalies, and a characteristic facial dysmorphismi. Here we report on a series of 20 sporadic KS patients and we focus on some rare and atypicali features that we have observed: chronic and/or severe diarrhea (4/20) including celiac disease, diaphragmatic defects (3/20), pseudarthrosis of the clavicles (2/20), vitiligoi (2/20), and persistent hypoglycemiai (2/20). Other occasional findings were severe autoimmune thrombopenia, cerebellar vermis atrophyi, and myopathic features. Interestingly, one of our KS patients presented with a clinical overlap with CHARGE syndrome (right eye microphtalmia with optic nerve colobomai, VSD, bilaterali cryptorchidismi, and severe deafness). Because these features are more frequent in our series than previously described, we propose to carefully investigate these manifestations during KS patient survey in an attempt to determine their real frequency and in order to improve clinical management.

Alternate JournalAm. J. Med. Genet. A
Citation Key15266618