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Select clinical features in the craniofacial region in women with Turner syndrome
1
Specialist Dental Clinic S.C., Żory, Poland
2
Department of Health Promotion and Community Nursing, Faculty of Health Sciences in Katowice, Medical University of Silesia in Katowice
3
Out-patient Clinic for Woman with Turner Syndrom, Specialist Hospital No. 2, Bytom, Poland
4
Department of Nephrology/ENDO Hospital of the Ministry of the Interior and Administration, Katowice, Poland
Corresponding author
Tomasz J. Irzyniec
Department of Health Promotion and Community Nursing, Faculty of Health Sciences in Kato- wice, Medical University of Silesia in Katowice, Poland, ul. Medyków 12, 40-752 Katowice
Department of Health Promotion and Community Nursing, Faculty of Health Sciences in Kato- wice, Medical University of Silesia in Katowice, Poland, ul. Medyków 12, 40-752 Katowice
Ann. Acad. Med. Siles. 2019;73:255-265
KEYWORDS
TOPICS
ABSTRACT
INTRODUCTION::
Turner syndrome (TS) is a chromosomal aberration in which a female is partly or completely missing an X chromosome. TS is manifested by a wide range of chromosomal karyotypes and clinical phenotypes. TS women may develop a variety of physical features also regarding craniofacial morphology.
AIM::
The aim was to conduct a review of literature on TS associated craniofacial anomalies as revealed on history taking and physical examination, as well as to evaluate the prevalence of these anomalies in the Polish TS population with different karyotypes.
MATERIAL AND METHODS::
A review of 1989–2017 MEDLINE resources on craniofacial anomalies in women with TS was conducted. The head circumference was measured and the prevalence of selected craniofacial features was assessed in 93 TS women with 45,X monosomy and 64 TS women with other karyotypes.
RESULTS::
Significant discrepancies were identified between literature reports with respect to the prevalence and severity of TS associated features in the craniofacial region. Nevertheless, the most common features include retrognathism, a high-arched palate and related feeding problems in infancy as well as a lower prevalence of abnormal dental development compared to the general population. A significantly larger head circumference was the only feature differentiating TS women with 45,X monosomy from those with other karyotypes.
CONCLUSIONS::
1. Retrognathism, a high-arched palate and patients’ reports on feeding problems in infancy might serve as key indicators of TS; 2. The literature review and analysis of the prevalence of TS associated craniofacial features are not suggestive of a relationship between these features and a particular karyotype.
Turner syndrome (TS) is a chromosomal aberration in which a female is partly or completely missing an X chromosome. TS is manifested by a wide range of chromosomal karyotypes and clinical phenotypes. TS women may develop a variety of physical features also regarding craniofacial morphology.
AIM::
The aim was to conduct a review of literature on TS associated craniofacial anomalies as revealed on history taking and physical examination, as well as to evaluate the prevalence of these anomalies in the Polish TS population with different karyotypes.
MATERIAL AND METHODS::
A review of 1989–2017 MEDLINE resources on craniofacial anomalies in women with TS was conducted. The head circumference was measured and the prevalence of selected craniofacial features was assessed in 93 TS women with 45,X monosomy and 64 TS women with other karyotypes.
RESULTS::
Significant discrepancies were identified between literature reports with respect to the prevalence and severity of TS associated features in the craniofacial region. Nevertheless, the most common features include retrognathism, a high-arched palate and related feeding problems in infancy as well as a lower prevalence of abnormal dental development compared to the general population. A significantly larger head circumference was the only feature differentiating TS women with 45,X monosomy from those with other karyotypes.
CONCLUSIONS::
1. Retrognathism, a high-arched palate and patients’ reports on feeding problems in infancy might serve as key indicators of TS; 2. The literature review and analysis of the prevalence of TS associated craniofacial features are not suggestive of a relationship between these features and a particular karyotype.
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