A patient with aneuploidy involving the X chromosome may present with a number of dental and oral defects.
(1) female with XXX, XXXX, XXXXX
(2) male with XXXY, XXXXY
(1) defects in dental enamel
(2) taurodontism ("bull tooth", see 09.31.02 above)
(3) abnormal dental roots
(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.
To read more or access our algorithms and calculators, please log in or register.
Specialty: Otolaryngology, Genetics