Klippel–Feil Syndrome: A Rare Case Report

JOURNAL TITLE: Donald School Journal of Ultrasound in Obstetrics and Gynecology

1. Mona AM Ali
2. Sally DE Mohammed
3. Hassan Osman
Publishing Year
Author Affiliations
1. com.mps.common.model.Contributor@6ad550d0 ,
2. com.mps.common.model.Contributor@38747330 ,
3. com.mps.common.model.Contributor@30743555
Article keywords
Cervical fusion, Klippel–Feil syndrome, Ultrasound


Background: Klippel–Feil syndrome (KFS) is defined as a congenital fusion of two or more cervical vertebrae. The most common signs are short neck, low hairline at the back of the head, and restricted mobility of neck. Case description: A term, female child weighing 2,522 g was born to a 34-year-old, a third gravida mother with a previous history of two cesarean sections. She was delivered by an elective cesarean section and had Apgar scores of 4 and 6 at 1 and 5 minutes, respectively. Ultrasound done at 22-week gestational age showed a single, viable fetus with hydrocephalous, short broad neck, and extended limbs. After adequate obstetric, genetic counseling and given all the information about the risks involving this pregnancy, the parents opted for conservative management without any intervention. On examination, she had the typical triad of KFS, including very short neck, low occipital hairline, and reduced bilateral neck movements. The child died immediately due to respiratory distress. Her parents refused to consent for postmortem scanning. Conclusion: Although KFS is a rare syndrome encountered less commonly and a classical triad is present in almost 50% cases, one should closely investigate for other anomalies associated with it for better, early management and rehabilitation.

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