Oral Surgical and Haematological Management in a Female Patient with Turner Syndrome and Moderate Haemophilia A: Clinical Observation and Case Report

Bogumił Lewandowski1, 3, *, Aleksander Myszka1, Robert Brodowski3, Ewelina Czenczek-Lewandowska2, Edyta Odnoczko4, Jerzy Windyga4
1 Institute of Medical Sciences, Medical College, University of Rzeszow, Rzeszow, Poland
2 Institute of Health Sciences, Medical College, University of Rzeszow, Rzeszow, Poland
3 Departament of Maxillofacial Surgery of the Fryderyk Chopin Clinical State Hospital in Rzeszow, Rzeszow, Poland
4 Department of Haemostasis and Metabolic Disorders, Institute of Haematology and Transfusion Medicine, Warsaw, Poland

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© 2021 Lewandowski et al.

open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: ( This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

* Address correspondence to this author at the 1Institute of Medical Sciences, Medical College, University of Rzeszow, Rzeszow, Poland; Tel: +48178721145; E-mail:



Turner syndrome patients are at higher risk of having X-linked recessive disorders that could have serious clinical implications. Somatic abnormalities that may coexist with coagulation disorders determine the medical procedure approaches.

Case Report:

We report a 29-year-old female showing dysmorphia, distinctive physical features, and coagulation disorder, referred for maxillofacial surgery. Based on clinical symptoms, the patient was diagnosed with Turner Syndrome, and haemophilia A. Karyotyping confirmed classical monosomy X in all analysed blood cells. Molecular studies revealed hemizygous point mutation c.5096A>G (p.Tyr1699Cys) in Factor VIII gene, in exon 14. This missense mutation disturbs the interaction of Factor VIII with the von Willebrand factor, causing moderate haemophilia in the proband. The article presents the clinical history and preparation of our patient for oral surgical and dental surgery treatment.


Turner syndrome patients require special attention due to the higher probability of congenital haemorrhagic diathesis. Maxillofacial surgery interventions in Turner syndrome and congenital haemorrhagic diathesis patients require individual patient preparation preventing post-extraction bleeding and ensuring proper local haemostasis.

Keywords: Turner syndrome, Moderate haemophilia A, Maxillofacial surgery, Coagulation disorders, Haemorrhagic diathesis, Dental surgery.