Goldenhar Syndrome

Incidence and Demographics

• Incidence is commonly quoted at approximately 1 in 3,500 to 1 in 5,600 live births, making the spectrum one of the commoner craniofacial malformations after cleft lip and palate. Precise figures vary widely because the diagnostic criteria applied across the spectrum differ between studies.
• Sex: a male predominance. In the largest single craniofacial clinic series described, Rollnick and colleagues reported 294 patients with a male to female ratio of 191 to 103.
• Laterality: right-sided involvement is more common than left, and bilateral involvement occurs in a substantial minority. In the same 294-patient series, microtia was unilateral in 193 and bilateral in 98, and in only 34 of the 98 bilateral cases was the microtia symmetric - a useful reminder that bilateral does not mean equal.
• Inheritance: the great majority of cases are sporadic. Familial cases with autosomal dominant and, less commonly, autosomal recessive patterns are described with variable expressivity, and a proportion have identifiable chromosomal abnormalities or copy number variants. Recurrence risk in a sporadic case is low but not zero, and formal genetic counselling should be offered.
• Associated exposures reported in some series include maternal diabetes, assisted reproduction, and vasoactive drug exposure in early pregnancy - associations rather than established causes.

Pattern of Orthopaedic Involvement

The honest position on frequencies: reported figures vary widely between series because they depend on whether the whole spine was imaged and on which end of the spectrum the cohort came from. What is consistent across series is the pattern rather than the percentage.

Developmental Basis

• The spectrum results from disturbed development of the first and second branchial (pharyngeal) arches and the adjacent structures, in the fourth to eighth weeks of gestation.
• Proposed mechanisms include vascular disruption of the stapedial or first and second arch arteries, haemorrhage into the developing arch region, and abnormal neural crest cell migration and interaction with the arch mesenchyme.
• The timing explains the pattern: the same developmental window governs the mandible and maxilla, the external and middle ear, the eye, and the early somites that will become the cervical and upper thoracic vertebrae. That co-timing, not a shared anatomical structure, is why a facial diagnosis predicts vertebral anomalies. Tsirikos and McMaster characterised the association as non-random unilateral errors in the morphogenesis of the spine and of the first and second branchial arches.
• Genetic heterogeneity is the rule. No single gene accounts for the majority of cases. Reported associations include copy number variants, chromosomal rearrangements and, in a small proportion, single gene variants, and a proportion of familial cases show autosomal dominant inheritance with markedly variable expressivity.
• Overlap with VACTERL (vertebral, anorectal, cardiac, tracheo-oesophageal, renal, limb) is well recognised, and some children have features of both. Practically, this means that finding one anomaly should trigger a search for the others.

Why the Vertebral Anomalies Take the Forms They Do

• A failure of formation produces a hemivertebra or a wedge vertebra.
• A failure of segmentation produces a block vertebra or a unilateral unsegmented bar.
• Mixed defects combine both and are the most deforming.
• In the cervical spine the same processes produce congenital fusion (the Klippel-Feil pattern), occipitalisation of the atlas, basilar invagination, odontoid anomalies including os odontoideum and odontoid hypoplasia, and posterior element deficiency.
• The two mechanisms are not evenly spread through the spine, and this is Tsirikos and McMaster's actual conclusion. In their series, failures of SEGMENTATION were the most frequent abnormality in the CERVICAL spine, whereas failures of FORMATION were commonest in the THORACIC and THORACOLUMBAR spine. That is why the same child tends to show a fused, short cervical spine of Klippel-Feil type and a thoracic curve driven by a hemivertebra - two different embryological failures at two different levels, not one process. It also tells you what to look for on each part of the film.
• Understanding the mechanism tells you the prognosis: it is the asymmetry of remaining growth potential, not the appearance of the anomaly, that determines whether a curve will progress.

What to Look For

• Short neck, low posterior hairline and restricted cervical motion - the classic Klippel-Feil clinical triad, present in only a minority of children with congenital cervical fusion, so its absence does not exclude the anomaly.
• Torticollis or a fixed head tilt, which may be structural (from a hemivertebra or unilateral fusion) or compensatory (for hearing or visual asymmetry) - and the two must be distinguished.
• Congenital cervical fusion at one or multiple non-contiguous levels.
• Occipitocervical anomalies - occipitalisation of the atlas, basilar invagination, posterior element deficiency.
• Odontoid anomalies - os odontoideum, odontoid hypoplasia or aplasia - the key substrate for atlantoaxial instability.
• Neurological assessment is mandatory and must be documented at every review: tone, power, reflexes, clonus, plantar responses, gait, hand function and dexterity, and bladder function. Subtle myelopathy in a child presents as deteriorating handwriting, clumsiness, a change in gait or new toe-walking rather than as a complaint of neck pain.
• Symptoms of instability or stenosis: neck pain, torticollis, headache, paraesthesiae, weakness, loss of dexterity, deteriorating gait, and in the worst case transient quadriparesis after a minor injury.

The Klippel-Feil Overlap

• Klippel-Feil syndrome is a description, not a competing diagnosis - congenital fusion of two or more cervical vertebrae, with or without the clinical triad.
• What matters clinically is not the number of fused levels but the consequences:
  • Adjacent segment hypermobility. Fused segments transfer motion to the mobile levels above and below, which become hypermobile and degenerate early. This is the mechanism of late instability and myelopathy.
  • Occipitocervical involvement carries the highest risk, particularly occipitalisation of the atlas combined with a mobile fusion below it, which concentrates all motion at the atlantoaxial joint.
  • Associated anomalies to look for: Sprengel deformity, scoliosis, rib anomalies, renal anomalies, congenital heart disease, hearing loss and, occasionally, mirror movements from synkinesis.
• Activity counselling is a genuine and often neglected part of management: children with multiple fused levels, occipitocervical anomalies or documented instability should be advised against collision and contact sports and against activities involving axial neck loading.

Congenital Scoliosis

• Arises from structural vertebral anomalies - hemivertebrae, wedge vertebrae, block vertebrae and unilateral unsegmented bars. In this population the thoracic spine is the commonest site, and an isolated hemivertebra the commonest single anomaly.
• Progression is determined by the asymmetry of remaining growth potential, not by the size of the curve at presentation. The classic risk hierarchy, established by McMaster and Ohtsuka in their study of 251 patients, is:
  1. Unilateral unsegmented bar with a contralateral hemivertebra - highest risk, severe and rapid.
  2. Unilateral unsegmented bar alone - high risk.
  3. Fully segmented hemivertebra - progressive, because it has growth plates above and below and no contralateral tether.
  4. Block vertebra and incarcerated or unsegmented hemivertebra - low risk.
• Periods of rapid growth (infancy and the adolescent growth spurt) are when progression accelerates - surveillance must be more frequent then.
• Bracing does not control the congenital curve because the deforming force is asymmetric growth within the anomalous segment. It may help control a flexible compensatory curve above or below.
• Do not forget the sagittal plane. Thoracolumbar kyphosis from posterior hemivertebrae, wedge vertebrae or an anterior unsegmented bar is described in this population and carries its own neurological risk.
• Thoracic insufficiency syndrome is the outcome to fear where multiple fused ribs, absent ribs or a hypoplastic hemithorax accompany the vertebral anomaly - the thorax cannot support normal respiration or lung growth. Assess with growth parameters, respiratory function where age permits, and imaging of the thorax.

Compensatory versus Congenital Curves

• A compensatory (non-structural) curve is flexible, corrects on side-bending and with positional change, and has no structural vertebral anomaly at its apex.
• A congenital (structural) curve has an identifiable vertebral anomaly at its apex, does not correct on bending, and progresses with growth.
• The distinction determines everything: congenital curves are surveilled and then operated on if they progress; compensatory curves are addressed by treating their cause and may be braced if flexible and symptomatic.

Radial Longitudinal Deficiency

• The most important limb anomaly in this spectrum, and one of the orthopaedic findings specifically identified in reviews of the syndrome. It ranges from mild radial shortening to complete radial absence with a radial club hand deformity - the forearm short and bowed, the wrist radially deviated and unsupported, and the hand at right angles to the forearm.
• Bayne and Klug classification is the standard framework: Type I a short distal radius, Type II a hypoplastic radius with abnormal growth at both ends, Type III partial absence of the radius, Type IV complete absence of the radius (the commonest type).
• Thumb hypoplasia frequently accompanies it and is graded by the Blauth classification: I a slightly small but stable thumb, II hypoplasia with a narrow first web, thenar deficiency and metacarpophalangeal instability, IIIA as II with skeletal deficiency but a stable carpometacarpal joint, IIIB as III but with an unstable or absent carpometacarpal joint, IV a floating thumb, V complete absence.
• The critical decision point is Blauth IIIA versus IIIB: a stable carpometacarpal joint (IIIA) permits reconstruction, whereas an unstable or absent one (IIIB) and above is managed by thumb ablation and index finger pollicisation.
• Radial deficiency in a child mandates a search for associated conditions - it is the marker anomaly for VACTERL, Holt-Oram syndrome, thrombocytopenia-absent radius (TAR) syndrome and Fanconi anaemia, the last of which is life-threatening and requires chromosomal breakage testing. This is a mandatory reflex.

Other Limb and Girdle Anomalies

• Sprengel deformity - congenital undescended, hypoplastic and malrotated scapula, often with an omovertebral bar to the cervical spine. Frequently accompanies cervical anomalies.
• Club foot (congenital talipes equinovarus) and other foot deformities.
• Developmental dysplasia of the hip, including frank congenital dislocation - examine every infant and image where risk factors or clinical findings are present.
• Limb hypoplasia or length discrepancy, and rarely more complex longitudinal deficiencies.
• Rib anomalies - fused, bifid, absent or supernumerary ribs, often at the level of the vertebral anomaly, and cervical ribs.

Principles

• Most congenital cervical anomalies are managed non-operatively with surveillance, activity modification and clear documentation.
• Surveillance: clinical review with a documented neurological examination, and repeat imaging including flexion-extension laterals at intervals determined by the anatomy and by growth. Increase frequency during growth spurts and if symptoms change.
• Activity counselling: advise against collision and contact sports and activities involving axial neck loading where there are multiple fused levels, occipitocervical anomalies, or any documented instability. Put this in writing.
• Communicate the cervical status to everyone. Every anaesthetist and every other surgeon needs to know whether the neck is stable and how far it may safely be moved. A written statement in the record and a note for the parents is one of the most valuable things you will do.

When to Fuse

Indications for surgical stabilisation:

• Any objective neurological deficit or documented myelopathy attributable to the cervical spine.
• Demonstrated instability on flexion-extension imaging - an increased or dynamically changing atlanto-dens interval, or a space available for the cord that is reduced below the safe threshold (a space available for the cord of less than about 13 mm is widely used as the level at which the risk of cord compromise becomes significant).
• Progressive deformity producing an unacceptable fixed head position or compromising function or the airway.
• Symptomatic adjacent segment degeneration with instability above or below a congenital fusion.
• Transient neurological events after minor trauma - an ominous sign that should prompt definitive stabilisation.

What the Operation Involves

• Level selection is dictated by the anatomy: an occipitocervical fusion where the occipitoatlantal junction is involved or the atlas is occipitalised, or an atlantoaxial fusion for isolated instability with a competent occipitoatlantal junction.
• Preoperative CT with vascular assessment is essential. The vertebral artery course is frequently anomalous in congenital cervical anomalies - high-riding, medially placed or aberrant - and lateral mass, pedicle and transarticular screw trajectories must be planned individually.
• Autograft, meticulous decortication and rigid instrumentation where the bone stock permits; in a small child, instrumentation options are limited by anatomy and onlay grafting with halo or rigid orthosis immobilisation may be required.
• Neuromonitoring and careful positioning - the neck must not be extended to obtain the view.
• Counsel about the cost of fusion: loss of motion, loading of adjacent levels, and in a growing child the effect on subsequent cervical growth and alignment.

The Positioning and Intubation Risk

• The most likely moment of catastrophe in this condition is not during spinal surgery but during an anaesthetic for something else - a dental procedure, a mandibular distraction, an ear reconstruction - when the neck is extended to secure a difficult airway in a child with unrecognised instability.
• Preventing that is an orthopaedic responsibility: screen the cervical spine, document the status, and state explicitly what neck movement is safe.

Congenital Scoliosis - the Decision Framework

• Establish whether the curve is congenital (structural) or compensatory (flexible).
• Characterise every anomaly on whole-spine radiographs and, where surgery is contemplated, on CT with three-dimensional reconstruction.
• Stratify progression risk by the asymmetry of growth potential (unilateral unsegmented bar with contralateral hemivertebra is worst; block vertebra is best).
• Obtain MRI of the whole spine before any surgery, to identify intraspinal anomalies that must be addressed first.
• Serial surveillance with radiographs at intervals matched to growth - more frequently in infancy and through the adolescent growth spurt.
• Assess the sagittal plane too - thoracolumbar kyphosis in this population may be the dominant deformity.

Non-Operative Management

• Observation with serial radiographs is the correct management for a non-progressive congenital curve.
• Bracing does not control the congenital curve. It may be used for a flexible compensatory curve above or below the anomalous segment, and to improve sitting balance in a child not yet suitable for surgery.
• Physiotherapy maintains flexibility and function but does not alter curve progression.

Operative Options

• Address intraspinal pathology first. A tethered cord or diastematomyelia is untethered or addressed before deformity correction, because correction stretches the cord.
• Neuromonitoring is mandatory for any corrective procedure. In a child with a congenital anomaly and possible intraspinal abnormality, the baseline may be abnormal and must be established before positioning.
• Consider the thorax, not just the spine. In a child with rib anomalies and a hypoplastic hemithorax, the goal is thoracic volume and respiratory function as much as coronal correction.

Radial Deficiency

• Start early and non-operatively: serial stretching and splinting from infancy to maintain and improve the position of the wrist and to stretch the radial soft-tissue contracture. This groundwork determines what is achievable surgically.
• Exclude the dangerous associations first: chromosomal breakage testing for Fanconi anaemia and a platelet count for TAR syndrome, plus an echocardiogram (Holt-Oram) and renal ultrasound and vertebral assessment (VACTERL).
• Surgical options for the wrist: soft-tissue distraction with an external fixator to bring the carpus over the ulna, then centralisation (positioning the carpus on the distal ulna) or radialisation (translating the carpus radially so the ulna supports the second metacarpal, with tendon transfers to balance it). Correct the ulnar bow where it is significant.
• The essential caveat: preserve elbow flexion and the ability to reach the mouth. In a child with a stiff elbow, the radially deviated wrist may be the only way the hand reaches the face, and straightening it can be functionally disabling. Assess elbow motion before planning wrist surgery.
• Thumb reconstruction by Blauth grade: grades I and II are managed by first web deepening, opponensplasty and stabilisation of the metacarpophalangeal joint; grade IIIA is reconstructed; grades IIIB, IV and V are managed by thumb ablation and index finger pollicisation, which reliably produces a functional, opposable, sensate thumb.

Sprengel Deformity

• Mild deformity with good abduction is managed non-operatively.
• Significant cosmetic deformity or functional restriction in a young child is treated by release of the tethering muscles and any omovertebral bar with scapular repositioning, most commonly by a Woodward or Green-type procedure. Results are generally better when performed in early childhood.
• Beware the brachial plexus and the cervical anomalies: excessive caudal translation of the scapula risks plexus traction, and the associated cervical spine anomaly must be characterised first.

Hip and Foot

• Developmental dysplasia and congenital dislocation of the hip - examine every infant, image where indicated, and treat by standard principles.
• Club foot - Ponseti method as first line, with the usual caveats about a syndromic and therefore stiffer and more relapse-prone foot requiring longer bracing and closer follow-up.
• Limb length discrepancy - monitor with serial measurement and plot on a growth chart; treat by standard principles when the predicted discrepancy warrants it.

The Anaesthetic Plan - Every Time

• Recognise the problem before the day of surgery. Mandibular hypoplasia, restricted mouth opening from temporomandibular and ramus deficiency, a small pharynx, and a cervical spine that is stiff, fused or unstable together create a predictably difficult airway in which the usual rescue manoeuvre - neck extension - is unavailable or unsafe.
• Preoperative work-up: documented airway assessment, review of previous anaesthetic records, cervical imaging including flexion-extension views with a written statement of stability and safe range, echocardiogram, renal function, and a plan agreed with a senior paediatric anaesthetist.
• Techniques: videolaryngoscopy, flexible fibreoptic intubation (awake or asleep and spontaneously breathing according to age and cooperation), a supraglottic airway as a conduit, and in the most difficult cases an elective surgical airway plan. Maintain spontaneous ventilation where possible until the airway is secured.
• Cervical protection: manual in-line stabilisation with the neck in neutral, explicit avoidance of extension, and consideration of neuromonitoring for positioning in a child with documented instability or a marginal space available for the cord.
• Positioning for prone or lateral surgery: turn the child with the head and neck controlled in neutral, and check monitoring signals after positioning and before draping.
• Postoperative care: anticipate obstructive apnoea, plan the level of postoperative monitoring in advance, be cautious with opioids in a child with obstructive sleep apnoea, and have a clear extubation plan including the criteria for delayed extubation.
• The teaching point: in this condition, the airway plan and the cervical spine assessment are the same conversation, and both must be complete before any operation on any part of the body.