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

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.