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Bicoronal craniosynostosis, turribrachycephaly (short
AP skull dimension, wide transverse dimension, and
increased vertical excess of skull), orbital
hypertelorism, proptosis, midface hypoplasia with class
III malocclusion, “parrot beak” nose, high-arched
palate, occasional cleft palate, and acne
Elevated ICP common
*Extremities: severe complex syndactyly of hands and
feet in which most or all digits are fused, including
phalanges; all interphalangeal joints of fingers are stiff;
lack PIP joints; also often have stiffness affecting
elbow and shoulder joints; 4-5 metacarpal synostosis;
and radial clinodactyly of the thumb
Mental status: variable
Crouzon Syndrome (Fig. 16-3B)
Genetics
Autosomal dominant
FGFR2 mutation
Craniofacial features
Coronal and lambdoidal synostosis, turribrachycephaly,
exorbitism/proptosis leading to exposure keratitis,
midface hypoplasia, class III malocclusion
Features less severe than Apert
Conductive hearing loss due to cranial base
abnormalities
Extremities: normal
Mental status: variable
Saethre-Chotzen Syndrome
Genetics
Autosomal dominant
*TWIST-1 mutation
Craniofacial features: asymmetric coronal synostosis,
shallow orbits, telecanthus, ptosis of eyelids, midface
hypoplasia, deviated nasal septum, low hairline
Extremities: partial syndactyly
Mental status: usually normal
Pfeiffer Syndrome
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Genetics
Autosomal dominant
FGFR1, FGFR2, FGFR3 mutations
Craniofacial features: turribrachycephaly, coronal and/or
sagittal synostosis, shallow orbits, hypertelorism,
downslanting palpebral fissures, and midface hypoplasia
*Extremities: broad thumbs and great toes, partial
syndactyly of digits 2 and 3
Mental status: variable
Jackson-Weiss syndrome
Genetics
Autosomal dominant
FGFR2 mutation
Craniofacial features: highly variable, may appear similar to
other syndromes
Extremities: broad great toes or syndactyly of toes
Carpenter Syndrome
Genetics
Autosomal recessive (most syndromic craniosynostosis
are AD)
*RAB23 mutation
Craniofacial features: variable suture synostosis, flat nasal
bridge, low set ears, abnormal globe, and canthi
Extremities: brachydactyly, syndactyly of hands and feet,
and short stature
Mental status: impaired
Boston-Type Craniosynostosis
Genetics
Autosomal dominant
MSX2 mutation
Craniofacial features: craniosynostosis, soft palate cleft
Extremities: short first metatarsal head, triphalangeal thumb
FUNCTIONAL SEQUELAE OF
CRANIOSYNOSTOSIS
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Central Nervous System
Varying degrees of cognitive impairment
Possible elevations in ICP (neurosurgical consultation is
requisite in all patients)
Ocular
Exorbitism may lead to exposure keratitis and visual
compromise.
Strabismus.
Bony orbit and ocular abnormalities may lead to deprivation
amblyopia.
Airway
Midface hypoplasia may result in varying degrees of airway
compromise: from obstructive sleep apnea to critical airway
stenosis.
Tracheostomy may be required.
Monobloc or Le Fort III advancement may also be required.
Abnormal Speech and Hearing
TREATMENT
Multidisciplinary team includes plastic surgeon, neurosurgeon,
otolaryngologist, pediatrician, oral surgeon, orthodontist,
pediatric dentist, ophthalmologist, geneticist, child
neuropsychologist, speech therapist, social worker, dietician,
and nurses.
Preoperative Considerations
Parents should be engaged in operative plan of care.
Preoperative hematocrit with type and cross (~80%
perioperative transfusion).
Two large-bore peripheral intravenous lines, urinary
catheter, and arterial line.
ICU bed for 24-48 hours postoperatively.
Perioperative antibiotics.
Perioperative steroids may be used to decrease swelling.
Prone vs supine positioning depending on involved
suture(s) and surgeon preference.
Special head rest may be necessary.
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Modified prone positioning.
Greater exposure
Preoperative cervical spine films required.
Ophthalmic ointment and corneal shields.
Anesthetic considerations.
Warming device to maintain normothermia
Hypotensive anesthesia
Cell-saver devices for directed autotransfusion
Antifibrinolytics (Amicar) and erythropoietin to mitigate
bleeding risk
Operative Interventions
Timing: 3 months to 1 year of age (earlier if evidence of
elevated ICP).
Earlier operation: patient maintains capacity for duralinduced ossification of small cranial defects.
Intraoperative tranexamic Acid (TXA) has been show to
decrease blood loss and need for transfusion
Postoperative Care
ICU monitoring for 24-48 hours.
Neurologic checks every 1-2 hours.
Serial hematocrits to evaluate ongoing bleeding.
Electrolyte abnormalities (especially Na+) due to disruption
of hypothalamic-pituitary axis.
SIADH (syndrome of inappropriate antidiuretic
hormone): low serum sodium, treat with fluid restriction,
salt tabs, or increased sodium in IV fluids.
Diabetes insipidus: high serum sodium and increased
urine output. Treat with fluid resuscitation due to the
risk of dehydration.
ICP monitoring (only in select cases).
Postoperative fever is very common; postoperative infection
is rare.
Other complications: venous air embolism, dural
lacerations, CSF leak, visual changes, seizures, meningitis,
and death.
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CRANIOFACIAL (TESSIER) CLEFTS
Etiology
Lack of fusion of facial processes
Lack of migration of mesoderm
Possible amniotic banding
General Considerations
Incidence: 1:100 000 births
*Tessier classification (Fig. 16-4)
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Figure 16-4 Tessier classification of
craniofacial clefts. (From Goldstein
JA, Losee JE. Craniofacial Clefts and
Orbital Hypertelorism. In: Chung KC,
ed. Grabb and Smith’s Plastic Surgery.
8th ed. Wolters Kluwer; 2020:301-311.
Figure 32.1.)
“Oculocentric”
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Cranial clefts extend superiorly from the lid margin.
Facial clefts extend inferiorly from the lid margin.
Corresponding cranial and facial clefts sum to 14 (eg, 0
and 14, 1 and 13, and 6 and 8).
Tessier 7 cleft
Most common of all craniofacial clefts
*Findings: ipsilateral microtia and
macrostomia
Clefts 0-3: oral-nasal, clefts 4-6: oral-ocular, clefts 7-9
lateral facial.
Soft tissue abnormalities predict the underlying bony clefts (eg,
irregular hairline and lid margins).
Clefts may involve globe (coloboma) and extraocular muscles.
BRANCHIAL ARCH SYNDROMES
AND HEMIFACIAL MICROSOMIA
Heterogeneous group of syndromes involving Tessier clefts 6, 7,
and 8
Includes Treacher Collins-Franceschetti complex, Goldenhar
syndrome, and hemifacial (craniofacial) microsomia
Etiology
Vascular insults during embryogenesis (ie, stapedial artery
thrombosis)
Teratogens: thalidomide and retinoic acid
Maternal diabetes
TREACHER COLLINSFRANCESCHETTI COMPLEX
(Mandibulofacial Dysostosis, Fig. 16-3C)
Genetics
Autosomal dominant
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TCOF1 mutation (chromosome 5)
*Craniofacial features: features are bilateral and
symmetrical, Tessier clefts 6-8, with hypoplasia of body
and arch of zygoma, mandibular hypoplasia, retrusion
of chin, prominent facial convexity, hypoplastic lower
eyelids with coloboma (congenital cleft of eyelid),
absence of medial lower eyelashes, and downslanting
palpebral fissures, and upper eyelids show tissue
redundancy and pseudoptosis
Associated Abnormalities
Microtia and middle ear anomalies result in conductive
hearing loss.
Cleft palate.
Abnormalities of hairline.
Airway compromise.
Decreased pharyngeal diameter secondary to
mandibular hypoplasia
May necessitate early airway intervention
Mental Status: normal intelligence
HEMIFACIAL (CRANIOFACIAL)
MICROSOMIA
Abnormal development in derivatives of the first and second
branchial arches
Genetics
Largely sporadic, occasional familial clustering
Incidence: 1 in 4000-5000 live births
Male predominance
Bilateral involvement in 10%-15% of cases
Craniofacial Features
Variable hypoplasia of the skeleton and overlying soft
tissues. Three structures most commonly affected:
mandible, maxilla, and auricle.
Mandible is always involved to a degree. Deformity ranges
from mild hypoplasia to complete absence of the ramus,
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condyle, or temporal mandibular joint.
Maxillary hypoplasia, upward occlusal cant on affected side,
cross bite, open bite, and macrostomia. “C” deformity on
frontal facial view.
Orbital dystopia and upper lid colobomas.
Facial muscle atrophy and weakness.
Cranial nerve abnormalities are frequent—the most
common is facial paralysis due to agenesis of facial nerve
(CN7).
External ear abnormalities with variable middle and inner
ear anomalies.
Mental Status: mental deficiency in 10% of cases
Classification Systems:
Several classification systems have been proposed.
OMENS+: Orbital dystopia, Mandibular hypoplasia, Ear
abnormalities, Nerve involvement, Soft tissue deficit,
+extra-craniofacial manifestations. Characterizes an
individual’s manifestations, but does not guide treatment.
Pruzansky-Kaban: classification based on the severity of
mandibular hypoplasia and TMJ derangement, usually
determined by 3D CT. Can be used to guide treatment
(Table 16-1).
TABLE 16-1 Pruzansky-Kaban Classifications of
Hemifacial Microsomia and Associated Treatments
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Treatment
Treatment depends on patient’s phenotype and needs.
Mild cases may not require treatment.
Mandibular distraction osteogenesis during early
adolescence ± reconstruction.
Le Fort osteotomy, bilateral split osteotomy of mandible,
and genioplasty may be required in skeletally mature
patients.
External ear reconstruction.
Audiologic evaluation and treatment for hearing loss.
GOLDENHAR-GORLIN SYNDROME
(Oculoauriculovertebral Dysplasia; Fig. 16-3D)
Genetics: majority of cases are sporadic.
Craniofacial Features
Within the spectrum of hemifacial microsomia but more
severe
Prominent frontal bossing, low hairline, mandibular and
maxillary hypoplasia, facial muscle weakness, epibulbar
dermoids (ocular dermoid tumors), preauricular skin tags
and ear pits, conductive hearing loss, and vertebral
abnormalities
Treatment: similar to hemifacial microsomia
QUESTIONS YOU WILL BE ASKED
1. What is Virchow law.
Growth restriction occurs perpendicular to the affected suture,
whereas compensatory skull growth occurs parallel to the
affected suture.
2. What is the difference between synostotic and deformational
plagiocephaly.
Deformational plagiocephaly results from external pressure
applied to the pliable fetal or infant skull vs craniosynostosis,
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