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 coarctation.

DESIGN

Descriptive case study.

SETTING

Tertiary medical center.

PATIENT(S): A 6-year-old girl with stigmata of Turner syndrome, aortic coarctation, patent ductus arteriosus, 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 fissures, everted lateral third of lower eyelids, arched eyebrows, a depressed nasal tip, large dysplastic 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 karyotype 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 chromosome abnormalities.