Otolaryngologic markers for the early diagnosis of Turner syndrome

Tomoko Makishima, Kelly King, Carmen C. Brewer, Christopher K. Zalewski, John Butman, Vladimir K. Bakalov, Carolyn Bondy, Andrew J. Griffith

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

Objective: To 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.

Original languageEnglish (US)
Pages (from-to)1564-1567
Number of pages4
JournalInternational Journal of Pediatric Otorhinolaryngology
Volume73
Issue number11
DOIs
StatePublished - Nov 2009
Externally publishedYes

Fingerprint

Turner Syndrome
Early Diagnosis
Otitis Media
Micrognathism
Palate
Sensorineural Hearing Loss
Pterygium
Karyotype
Ear
Phenotype
National Institutes of Health (U.S.)
X Chromosome
Hearing Loss
Outcome Assessment (Health Care)
Prospective Studies

Keywords

  • High-arched palate
  • Ogival palate
  • Turner syndrome

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Pediatrics, Perinatology, and Child Health

Cite this

Makishima, T., King, K., Brewer, C. C., Zalewski, C. K., Butman, J., Bakalov, V. K., ... Griffith, A. J. (2009). Otolaryngologic markers for the early diagnosis of Turner syndrome. International Journal of Pediatric Otorhinolaryngology, 73(11), 1564-1567. https://doi.org/10.1016/j.ijporl.2009.08.005

Otolaryngologic markers for the early diagnosis of Turner syndrome. / Makishima, Tomoko; King, Kelly; Brewer, Carmen C.; Zalewski, Christopher K.; Butman, John; Bakalov, Vladimir K.; Bondy, Carolyn; Griffith, Andrew J.

In: International Journal of Pediatric Otorhinolaryngology, Vol. 73, No. 11, 11.2009, p. 1564-1567.

Research output: Contribution to journalArticle

Makishima, T, King, K, Brewer, CC, Zalewski, CK, Butman, J, Bakalov, VK, Bondy, C & Griffith, AJ 2009, 'Otolaryngologic markers for the early diagnosis of Turner syndrome', International Journal of Pediatric Otorhinolaryngology, vol. 73, no. 11, pp. 1564-1567. https://doi.org/10.1016/j.ijporl.2009.08.005
Makishima, Tomoko ; King, Kelly ; Brewer, Carmen C. ; Zalewski, Christopher K. ; Butman, John ; Bakalov, Vladimir K. ; Bondy, Carolyn ; Griffith, Andrew J. / Otolaryngologic markers for the early diagnosis of Turner syndrome. In: International Journal of Pediatric Otorhinolaryngology. 2009 ; Vol. 73, No. 11. pp. 1564-1567.
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abstract = "Objective: To 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.",
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AB - Objective: To 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.

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