Bilateral Cleft Lip and Palate Accompanied by 13q- Syndrome with Deficiencies of FVII and FX: A Case Report

The 13q deletion syndrome is a rare genetic disorder caused by structural and functional monosomy of chromosome 13. On 13q34, which is the terminal of the long arm, causative genes of coagulation factors VII and X (FVII and FX) are mapped. Patients with a combination of FVII and FX deficiencies are extremely rare and there have been few articles about perioperative coagulation support for such patients. Herein, we report on a case of bilateral cleft lip and palate accompanied by 13q deletion syndrome with deficiencies of FVII and FX.

The chromosomal investigation indicated 46, XX, del(13)(q33) by G-banding. Prothrombin time and activated partial thromboplastin time were found to be 21.0 seconds (sec) (prothrombin time–international normalized ratio 1.76) and 41.6 sec (normal range; 23.9 – 39.7 sec), respectively. The activities of coagulation FVII and FX were 22% and 36%, respectively. A two-stage cheiloplasty was performed at 4 and 7 months of age followed by a palatoplasty at 1 year and 6 months. Tranexamic acid was given intravenously three times a day for three days after each surgery. There were no adverse events such as bleeding from the oral or nasal cavities and healing of the surgical wound was good without dehiscence.

13q deletion syndrome; Combined FVII/FX deficiency; Bilateral cleft lip and palate; Tranexamic acid

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