Clinical value of maxillofacial characteristics in Turner syndrome patients

Abstract

Abstract: Turner syndrome has characteristic maxillofacial abnormalities associated with a variety of diseases, including conductive hearing loss, feeding difficulties, sleep apnea, and vocal abnormalities. The maxillofacial characters of Turner syndrome can be quantitatively studied by cephalometric study. Prenatal diagnosis can also be performed by maxillofacial abnormalities. These abnormalities may be related to genes affecting the development of the first pharyngeal arch on the X chromosome, such as SHOX; may also be associated with genes on the X chromosome that affect histone modifications, such as HDAC8. Long-term growth hormone therapy has an enhanced effect on craniofacial development in patients with Turner syndrome, and a significant improvement on mandibular growth. However, growth hormone therapy can not completely normalize maxillofacial abnormalities. Maxillofacial abnormalities in patients with Turner syndrome should draw more attention due to its diagnostic value, associated disease risk and treatable potential.

Key words: Turner syndrome, maxillofacial, micrognathia, retrognathia, high arched palate

CLC Number:

R725.8

LIANG Si-yu, CHEN Shi, WANG Shi-rui, PAN Zhou-xian, ZHU Jia-wei, ZHU Hui-juan, PAN Hui. Clinical value of maxillofacial characteristics in Turner syndrome patients[J]. Basic & Clinical Medicine, 2020, 40(2): 248-252.

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