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.


METHODS
Descriptive case study.


METHODS
Tertiary medical center.


METHODS
A 6-year-old girl with stigmata of Turner syndrome, aortic coarctation, patent ductus arteriosus, and a peculiar facial appearance.


METHODS
None.


METHODS
Cytogenetic analysis.


RESULTS
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].


CONCLUSIONS
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.
Chen
Chih-Ping
CP
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
Lin
Shuan-Pei
SP
Tsai
Fuu-Jen
FJ
Chern
Schu-Rern
SR
Wang
Wayseen
W
D000015:Abnormalities, Multiple / Q000235:genetics*; D001017:Aortic Coarctation / Q000150:complications* / Q000235:genetics*; D002648:Child; D004303:Dosage Compensation, Genetic / Q000235:genetics*; D005260:Female; D006801:Humans; D009030:Mosaicism; D012729:Sex Chromosome Aberrations / Q000145:classification*; D013577:Syndrome