(Congenital Brevicollis)

Incidence estimated at 1/40,000. Generally sporadic with some cases of autosomal dominant or recessive transmission. Congenital default of segmentation of the cervical somites: mutation of the GDF3 gene on 12p13 [MIM 613 702], GDF6 gene on 8q22 [MIM 118 100] or MEOX1 gene on 17q21 [MIM 214 300]. This results in 50% of cases combining the classical triad: fusion of 2 cervical vertebrae or more, short neck with limited movement and low posterior implantation of hair. The clinical presentation is highly variable.

There are 3 forms:

-        type I: fusion of several cervical and thoracic vertebrae in a block

-        type II (most common): lack of segmentation of the vertebrae on 1 or 2 segments

-        type III: type I or II abnormalities associated with thoracic and lumbar vertebral anomalies.

Commonly associated malformations:

-        cardiac malformation: VSD

-        cleft palate

-        kidney problems

-        abnormalities of the brainstem and cerebellum cause obstructive hydrocephalus;

-        deafness, facial palsy, Duane anomaly (see this term)

-        narrow vertebral canal;

-        scoliosis; spina bifida or sometimes encephalocele

-        Sprengel anomaly (congenital elevation of the scapula): 35 % (see this term)

-        short stature.

A form is associated with laryngeal anomalies and other urogenital anomalies (MURCS syndrome, see this term)

The main problem is the instability of the cervical spine by hypermobility of the not fused vertebrae.

Possible complication: intracranial migration of the odontoid process.

Anesthetic implications:

echocardiography; monitor renal function.

Anticipate a difficult intubation even if it is often easy: intubation difficulties get worse with age. Check lateral XRay view or better MRI to evaluate the risk of medullary compression by neck movements. The GlidescopeŠ has been used successfully but loses its effectiveness in case of restrictions on the mobility of the C1 - C2 vertebrae, for example after a cervical or occipital-cervical arthrodesis. Check for absence of perimedullar anomalies (tethered spinal cord, spina bifida occulta) In case of neuraxial block, in addition to the technical difficulty associated with segmental anomalies, there may be abnormalities of diffusion of the injected solution.

References : 

-        Naguib M, Farag H, Ibrahim Ae. 
Anaesthetic considerations in Klippel-Feil syndrome. 
Can Anaesth Soc J 1986; 33:66-70.

-        O’Conner PJ, Moysa GL, Finucane BT.
Thoracic epidural anaesthesia for bilateral reduction mammoplasty in a patient with Klippel-Feil syndrome, 
Anesth Analg 2001; 92:514-6 

-        Farid IS, Omar OA, Insler SR.
Multiple anesthetic challenges in a patient with Klippel-Feil syndrome undergoing cardiac surgery.
J Cardiothorac Vasc Surg 2003; 17: 502-5.

-        Cakmakkaya OS, Kaya G, Altintas F, Bakan M, Yildirim A. 
Anesthetic management of a child with Arnold-Chiari malformation and Klippel-Feil syndrome. Paediatr Anaesth 2006; 16: 355-6.

-        Stallmer ML, Vanaharam V, Mashour GA. 
Congenital cervical spine fusion and airway management: a case series of Klippel-Feil syndrome.J Clin Anesth 2008; 20: 447-51.

-        Serdiuk AA, Bosek V. 
An adult patient with Klippel-Feil syndrome presenting for repeat operation: a cautionary tale of the Glidescope. 
J Clin Anesth 2012; 24: 238-41.  

-        Ng V, Paramasivan A, Loh WS, Loh W, Khoo D, Leang LT.
Multiple episodes of airway management in a child with Klippel-Feil syndrome.
Anaesthesia Cases; 2017; 5: 26-9

-        Chura M, Odo N, Foley E, Bora V.
Cervical deformity and potential difficult airway management in Klippel-Feil syndrome.
Anesthesiology 2018; 128: 1007. 

-        Santonastaso DP, de Chiara A, Addis A, Pini R et al.
Spinal anesthesia with a low dosage of local anesthetic for urgent cesarean delivery in a parturient with Klippel-Feil syndrome.
J Clin Anesth 2019; 52: 78-9.

-        Stevens E, Williams B, Kock N, Kitching M, Simpson MP.
Cord injury after spinal anaesthesia in a patient with previously undiagnosed Klippel-Feil syndrome.
Anaesthesia Reports 2019; 7:7-10

Updated: February 2022