- 作者：Tomoko Makishima ; Kelly King ; Carmen C. Brewer ; Christopher K. Zalewski ; John Butman ; Vladimir K. Bakalov ; Carolyn Bondy ; Andrew J. Griffith
- 刊名：International Journal of Pediatric Otorhinolaryngology
- 出版年：2009
- 出版时间：November 2009
- 年：2009
- 卷：73
- 期：11
- 页码：1564-1567
- 全文大小：206 K
ObjectiveTo identify and characterize otolaryngologic markers for the early diagnosis of Turner syndrome (TS).Study design
Prospective cohort survey.
Methods
Setting: Clinical Center of the National Institutes of Health (NIH). Patients: Ninety-one females, 7–61 years old (average = 28.7 y), enrolled in a multidisciplinary study of karyotype–phenotype correlations in TS. Main outcome measures: Age at diagnosis, X chromosome karyotype, history of chronic or recurrent otitis media (OM), sensorineural hearing loss (SNHL), palate dysmorphism, pinna deformity, pterygium colli, low posterior hairline, low-set ears, and micrognathia.
Results
Sixty-nine (76 % ) patients had a history of chronic or recurrent OM, 62 (68 % ) had a dysmorphic palate, 57 (63 % ) had SNHL, and 90 (99 % ) had one or more of these findings. 83 (91 % ; average age at diagnosis = 9.4 y) had one or more external craniofacial signs: pinna abnormalities, pterygium colli, low-set ears, micrognathia or a low posterior hairline. Eight patients (average age at diagnosis = 13.2 y) had no external craniofacial signs, although seven (88 % ) of these eight patients had a history of chronic or recurrent OM, dysmorphic palate or SNHL. The age at diagnosis was not significantly different between groups with or without external craniofacial signs (P = 0.126).
Conclusions
Patients with mild or incompletely penetrant TS phenotypes often present with otitis media, hearing loss, or both before the diagnosis of TS is established. Palatal dysmorphism, including ogival morphology, is another otolaryngologic marker for TS. Prompt recognition of these manifestations of TS could hasten its diagnosis and appropriate medical care.