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
Identifiers and Pagination:Year: 2021
First Page: 423
Last Page: 427
Publisher Id: TODENTJ-15-423
Article History:Received Date: 20/6/2021
Revision Received Date: 2/7/2021
Acceptance Date: 20/7/2021
Electronic publication date: 17/09/2021
Collection year: 2021
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: (https://creativecommons.org/licenses/by/4.0/legalcode). This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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.
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.