Klippel-Feil Syndrome: A Rare Case

Background: Klippel-Feil Syndrome (KFS) is an uncommon congenital condition characterised by the fusion of two or more cervical vertebrae, which is sometimes accompanied by additional congenital abnormalities. Short neck, low hairline at the back of the head, and restricted neck movement are the most typical symptoms.

Case Presentation: An ultrasound examination of a 34-year-old mother’s foetus at 22 weeks gestational age revealed an abnormal foetus. The patient was a mother of two healthy caesarean-sectioned children. A single, viable foetus with a hydrocephalous, short broad neck and expanded limbs was seen on sonographic testing. The parents were told about the syndrome and the predicted result after a clinical diagnosis of KFS was made. No intervention was chosen in favour of a cautious management approach. The patient was delivered via elective caesarean section at 37 weeks. At 1 and 5 minutes, an Apgar score of 4 and 6 was recorded for a female child weighing 2522 g. Short neck, low occipital hairline, and limited bilateral neck movements were all symptoms of KFS in this youngster. Unfortunately, due to respiratory difficulty, it died practically quickly. The parents objected to any post-mortem examination.

Conclusion: The Klippel-Feil syndrome’s conventional triad is present in just around half of the patients. Other symptoms of the illness that may be observed are described in this study. KFS is uncommon, but with a high index of suspicion, it is easy to diagnose. Early detection can aid in the investigation of additional anomalies linked with it, as well as the early therapy and rehabilitation of the patient.

Author(S) Details

Sally Damra Elnour Mohammed
Department of Obstetrics and Gynecology, Nahda College, Khartoum, Sudan.

Mona Awadallah Mohammed Ali
Department of Research, Faculty of Medicine, University of Medical Sciences and Technology -Khartoum, Sudan.

Hassan Osman
Gezira University, Khartoum, Sudan.

View Book:- https://stm.bookpi.org/NFMMR-V17/article/view/4211

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