Klippel-Feil Syndrome: A Rare Case

Background: Klippel-Feil Syndrome (KFS) is a rare congenital anomaly consisting of fusion of two or more cervical vertebrae, often with other associated congenital defects. The most common signs are short neck, low hairline at the back of the head, and restricted mobility the neck

Case Presentation: A 34-year-old mother was found to have an abnormal fetus on ultrasound examination done at 22-weeks gestational age. The patient was a mother of two healthy children delivered by caesarean sections. The sonographic examination showed a single, viable fetus with a hydrocephalous, short broad neck and extended limbs. A clinical diagnosis of KFS was made and the parents were informed about the syndrome and the expected outcome. Opted for conservative management without any intervention. At 37 weeks the patient was delivered by elective caesarean section. A female child weighing 2522 g was born with an Apgar score of 4 and 6 at 1 and 5 min, respectively. The child had the typical triad of KFS, including short neck, low occipital hairline, and reduced bilateral neck movements. Unfortunately, it died almost immediately due to respiratory distress. The parents denied any post-mortem scanning.

Conclusion: The classical triad of the Klippel-Feil syndrome is present in only about 50% of cases. In this report, we describe other features of the syndrome that may be encountered. KFS is rare but the diagnosis is not difficult given a high index of suspicion. Early diagnosis can help in, investigating for other anomalies associated with it for better, early management and rehabilitation.