A patient with aneuploidy involving the X chromosome may present with a number of dental and oral defects.


Patient selection:

(1) female with XXX, XXXX, XXXXX

(2) male with XXXY, XXXXY


Dental defects:

(1) defects in dental enamel

(2) taurodontism ("bull tooth", see 09.31.02 above)

(3) abnormal dental roots


Oral defects:

(1) macroglossia

(2) bifid uvula


A patient presenting with one or more of these findings should be evaluated for other malformations. A patient with appropriate risk factors should have genetic testing to enumerate the sex chromosomes.


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