Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation.

TitleKabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation.
Publication TypeJournal Article
Year of Publication2008
AuthorsChen C-P, Lin S-P, Tsai F-J, Chern S-R, Wang W
JournalFertility and sterility
Date Published2008 Jun

OBJECTIVE: To describe the clinical findings of a patient with mosaic 45,X/47,XXX and aortic coarctationi. DESIGN: Descriptive case study. SETTING: Tertiary medical center. PATIENT(S): A 6-year-old girl with stigmata of Turner syndromei, aortic coarctation, patenti ductus arteriosusi, and a peculiar facial appearance. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Cytogenetic analysis. RESULT(S): The patient manifested a characteristic Kabuki syndrome facial appearance with long palpebral fissuresi, everted laterali third of lower eyelids, arched eyebrows, a depressed nasali tip, large dysplastici ears and epicanthic folds. She had undergone cardiac surgery for treatment of aortic coarctation and patent ductus arteriosus. Cytogenetic analysis of the blood lymphocytes revealed a karyotypei of mos 45,X,9ph [35 cells]/47,XXX,9ph [5 cells]. CONCLUSION(S): This is the first report of mosaic 45,X/47,XXX associated with Kabuki syndrome. We emphasize that Kabuki syndrome, a peculiar facial appearance and aortic coarctation, should be considered in girls with sex chromosomei abnormalities.

Alternate JournalFertil. Steril.
Citation Key17953951