Donald School Journal of Ultrasound in Obstetrics and Gynecology

Register      Login

VOLUME 14 , ISSUE 1 ( January-March, 2020 ) > List of Articles


Klippel–Feil Syndrome: A Rare Case Report

Sally DE Mohammed, Mona AM Ali, Hassan Osman

Keywords : Cervical fusion, Klippel–Feil syndrome, Ultrasound

Citation Information : Mohammed SD, Ali MA, Osman H. Klippel–Feil Syndrome: A Rare Case Report. Donald School J Ultrasound Obstet Gynecol 2020; 14 (1):14-16.

DOI: 10.5005/jp-journals-10009-1624

License: CC BY-NC 4.0

Published Online: 01-12-2018

Copyright Statement:  Copyright © 2020; The Author(s).


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.

  1. Jones KL. Smith's recognizable pattern of human kolkotta. malformation, 5th ed., Philadelphia: WB Saunders Company; 1997.
  2. Pledger SR, Cervical Spine Disease. Ortho Secrets, 1989. 3rd ed., vol. 55; 2003. pp. 107–118.
  3. James W, Berger T, Elston D. Andrews' Diseases of the Skin: Clinical Dermatology, 10th ed., Saunders; 2005. ISBN 0-7216-2921-0.
  4. Isidor B, David A. Two girls with short stature, short neck, vertebral anomalies, sprengel deformity and intellectual disability. Eur J Med Genet 2015;58(1):47–50. DOI: 10.1016/j.ejmg.2014.11.001.
  5. Clarke RA, Catalan G, Diwan AD, et al. Heterogeneity in Klippel-Feil syndrome: a new classification. Pediatr Radiol 1998;28(12):967–974. DOI: 10.1007/s002470050511.
  6. Clarke RA, Kearsley JH, Walsh DA. Patterned expression in familial Klippel-Feil syndrome. Teratology 1996;53(3):152–157. DOI: 10.1002/(SICI)1096-9926(199603)53:3<152::AID-TERA2>3.0.CO;2-6.
  7. Nguyen VD, Tyrrel R. Klippel-Feil syndrome: patterns of bony fusion and wasp-waist sign. Skeletal Radiol 1993;22(7):519–523. DOI: 10.1007/BF00209100.
  8. Gorlin RJ, Cohen M, Hennekam R. Syndromes of the head and neck, 4th ed., Oxford University Press; 2001. p. 1142.
  9. Mohamed JY, Faqeih E, Alsiddiky A, et al. Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. Am J Hum Genet 2013;92(1):157–161. DOI: 10.1016/j.ajhg.2012. 11.016.
  10. Pizzutillo PD. Klippel-Feil syndrome. In: The cervical spine. Philadelphia: The Cervical Spine Research Society, Lippincott; 1983. pp. 174–188.
  11. David KM, Thorogood PV, Stevens JM, et al. The dysmorphic cervical spine in Klippel-Feil syndrome: interpretations from developmental biology. Neurosurg Focus 1999;6(6):e1. DOI: 10.3171/foc.1999. 6.6.4.
  12. Gunderson CH, Greenspan RH, Glaser GH, et al. The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion. Medicine (Baltimore) 1967;46(6):491–512. DOI: 10.1097/00005792-196711000-00003.
  13. Karaca E, Yuregir OO, Bozdogan ST, et al. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome. Am J Med Genet A 2015;167A(11):2795–2799. DOI: 10.1002/ajmg.a.37263.
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.