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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