**4.3 Craniofacial dysostosis**

#### *4.3.1 Apert syndrome*

*Overview*: also known as acrocephalosyndactyly Type I, this syndrome encompasses the following characteristics: premature closure of the cranial sutures, syndactyly of hands and feet, mid-facial hypoplasia, and midline calvarial defects from the glabella to the posterior fontanelle. Cervical spine fusion mainly at the level of C5-C6 is commonly involved, in addition to congenital cardiac defects. It was initially described by Eugene Charles Apert, a French pediatrician, in 1906 [4] (**Figure 2**).

*Genetics*: the genetic inheritance is of autosomal dominant nature, but mainly occurs through sporadic gene mutations of the FGFR-2 gene, mapped to 10q26.

*Incidence*: 1:65,000 to 1:160,000 of births. Males and females are equally affected. This syndrome represents 5% of all craniosynostoses.

*Pathophysiology*: Apert syndrome entails abnormal osseous development. The cranium and the extremities are most commonly implicated.

*Clinical considerations*: Characteristically, these patients have high forehead and flat facies, resulting mainly from coronal suture involvement. Abnormal facies have also been characterized by spheno-ethmoid-maxillary hypoplasia, a bulboustipped nose, a sunken nasal bridge, and a high arched palate and cleft. Frequently

#### **Figure 2.**

*Apert syndrome: prominent forehead, hypertelorism, proptosis, low set ears, open mouth, and feet with extensive syndactyly [19].*

**163**

*An Approach to the Airway Management in Children with Craniofacial Anomalies*

rings, imperforate anus, biliary atresia, and pyloric stenosis [4, 7, 17].

*Airway and anesthetic implications*: thorough airway and head and neck evaluation is warranted prior to anesthesia administration in this condition. It would be important to ascertain whether there is any cervical spine fusion, abnormalities of the nasopharynx, palate, and/or trachea. Echocardiography is necessary to rule out congenital cardiac involvement. A chest radiograph may be indicated as many of these infants suffer respiratory complications during anesthesia. During anesthesia induction, one should prepare for likely difficult airway management. Maintenance of spontaneous ventilation until airway is secured is of vital importance. Alternate airway management techniques should be planned (video laryngoscope, fiberoptic intubation, and laryngeal mask airway). Depending on the type of the surgery, intravenous access and blood transfusion considerations

*Overview*: this craniofacial dysostosis condition is very similar to Apert syndrome but does not necessarily involve extensive syndactyly. Crouzon syndrome is also known as acrocephalosyndactyly Type II. Clinical characters include hypertelorism (increased distance between the two orbits), exophthalmos, maxillary hypoplasia, and macrognathia. Initially designated by Octave Crouzon, a French

*Genetics*: autosomal dominant, but sporadic mutations occur in up to 50% of the

*Incidence*: 1:25,000 of births, with both males and females being equally

*Pathophysiology*: the genetic mutation in this condition leads to accelerated maturation of osteoblastic cells, such that during fetal development, there is

premature ossification of the calvaria leading to craniosynostosis (mainly involving

*Clinical considerations*: maxillary hypoplasia associated with mandibular prognathism is commonly seen. Hypertelorism and proptosis are common ophthalmologic findings. It is common to find a high arched palate with a cleft and a bifid uvula. Choanal atresia has been demonstrated in Crouzon syndrome. Central nervous system findings include mental retardation, progressive hydrocephalus with associated intracranial hypertension, and very commonly an associated chronic herniation of the cerebellar tonsils. Twenty five percent of these patients present with cervical spine fusion most commonly at the level of C2-C3. Syndactyly is considered much

cases. Genetically mapped to 10q26, encoding for the FGFR-2.

affected, accounting for 4.5% of all cases of craniosynostoses.

the coronal, sagittal and at times the lambdoidal sutures).

less severe as compared to Apert syndrome [6, 7, 17].

involved is choanal stenosis/atresia. In the context of the central nervous system, agenesis of the corpus callosum, hydrocephalus, an abnormal limbic system, and pyramidal tract have been portrayed. Early neurosurgical correction does not abate mental retardation in these patients. Seventy percent of these patients present with fusion of – more commonly – C5-C6 cervical vertebrae, although other levels may be involved. If limbs are involved, they often present with symmetric syndactyly (commonly the second, third, and fourth digits). Various joints (shoulders and hips) may be ankylotic or even aplastic. In the cardiac context, in 10% of the time, these anomalies involve patent ductus arteriosis (PDA), atrial septal defect (ASD), ventricular septal defect (VSD), Tetralogy of Fallot (TOF), pulmonary stenosis, or coarctation of the aorta. In the urologic context, 10% of these patients can present with polycystic kidneys, vaginal atresia, bicornuate uterus, hydronephrosis, and bladder neck stenosis. Airway/GI anomalies may occur in up to 2% of patients, including esophageal atresia, tracheoesophageal fistula, vertically fused tracheal

*DOI: http://dx.doi.org/10.5772/intechopen.93426*

are warranted accordingly [1, 20, 21].

*4.3.2 Crouzon syndrome*

neurologist, in 1912.

#### *An Approach to the Airway Management in Children with Craniofacial Anomalies DOI: http://dx.doi.org/10.5772/intechopen.93426*

involved is choanal stenosis/atresia. In the context of the central nervous system, agenesis of the corpus callosum, hydrocephalus, an abnormal limbic system, and pyramidal tract have been portrayed. Early neurosurgical correction does not abate mental retardation in these patients. Seventy percent of these patients present with fusion of – more commonly – C5-C6 cervical vertebrae, although other levels may be involved. If limbs are involved, they often present with symmetric syndactyly (commonly the second, third, and fourth digits). Various joints (shoulders and hips) may be ankylotic or even aplastic. In the cardiac context, in 10% of the time, these anomalies involve patent ductus arteriosis (PDA), atrial septal defect (ASD), ventricular septal defect (VSD), Tetralogy of Fallot (TOF), pulmonary stenosis, or coarctation of the aorta. In the urologic context, 10% of these patients can present with polycystic kidneys, vaginal atresia, bicornuate uterus, hydronephrosis, and bladder neck stenosis. Airway/GI anomalies may occur in up to 2% of patients, including esophageal atresia, tracheoesophageal fistula, vertically fused tracheal rings, imperforate anus, biliary atresia, and pyloric stenosis [4, 7, 17].

*Airway and anesthetic implications*: thorough airway and head and neck evaluation is warranted prior to anesthesia administration in this condition. It would be important to ascertain whether there is any cervical spine fusion, abnormalities of the nasopharynx, palate, and/or trachea. Echocardiography is necessary to rule out congenital cardiac involvement. A chest radiograph may be indicated as many of these infants suffer respiratory complications during anesthesia. During anesthesia induction, one should prepare for likely difficult airway management. Maintenance of spontaneous ventilation until airway is secured is of vital importance. Alternate airway management techniques should be planned (video laryngoscope, fiberoptic intubation, and laryngeal mask airway). Depending on the type of the surgery, intravenous access and blood transfusion considerations are warranted accordingly [1, 20, 21].

#### *4.3.2 Crouzon syndrome*

*Special Considerations in Human Airway Management*

and if failed, an immediate insertion of an LMA.

taken immediately.

obstruction/respiratory distress.

**4.3 Craniofacial dysostosis**

*4.3.1 Apert syndrome*

(**Figure 2**).

two-handed ventilation technique with oropharyngeal/nasopharyngeal airway,

If intubation was difficult and traumatic, then extubation should not be attempted at the end of the procedure, but rather the patient should be appropriately sedated/paralyzed and transferred to the ICU for post-operative care where extubation should be delayed until the patient is fully awake and has a positive leak test, along with the appropriate set up for a re-intubation in case of airway

*Overview*: also known as acrocephalosyndactyly Type I, this syndrome encom-

*Genetics*: the genetic inheritance is of autosomal dominant nature, but mainly occurs through sporadic gene mutations of the FGFR-2 gene, mapped to 10q26. *Incidence*: 1:65,000 to 1:160,000 of births. Males and females are equally

*Pathophysiology*: Apert syndrome entails abnormal osseous development. The

*Clinical considerations*: Characteristically, these patients have high forehead and flat facies, resulting mainly from coronal suture involvement. Abnormal facies have also been characterized by spheno-ethmoid-maxillary hypoplasia, a bulboustipped nose, a sunken nasal bridge, and a high arched palate and cleft. Frequently

*Apert syndrome: prominent forehead, hypertelorism, proptosis, low set ears, open mouth, and feet with* 

passes the following characteristics: premature closure of the cranial sutures, syndactyly of hands and feet, mid-facial hypoplasia, and midline calvarial defects from the glabella to the posterior fontanelle. Cervical spine fusion mainly at the level of C5-C6 is commonly involved, in addition to congenital cardiac defects. It was initially described by Eugene Charles Apert, a French pediatrician, in 1906 [4]

affected. This syndrome represents 5% of all craniosynostoses.

cranium and the extremities are most commonly implicated.

In case of failure of the above techniques, a laryngoscopy attempt may be tried once as to relief the obstruction done by the tongue and resumption of spontaneous breathing, or to possibly intubate. Should it fail, a prompt decision to establish an emergent surgical airway access (tracheostomy) by the otolaryngologist must be

**162**

**Figure 2.**

*extensive syndactyly [19].*

*Overview*: this craniofacial dysostosis condition is very similar to Apert syndrome but does not necessarily involve extensive syndactyly. Crouzon syndrome is also known as acrocephalosyndactyly Type II. Clinical characters include hypertelorism (increased distance between the two orbits), exophthalmos, maxillary hypoplasia, and macrognathia. Initially designated by Octave Crouzon, a French neurologist, in 1912.

*Genetics*: autosomal dominant, but sporadic mutations occur in up to 50% of the cases. Genetically mapped to 10q26, encoding for the FGFR-2.

*Incidence*: 1:25,000 of births, with both males and females being equally affected, accounting for 4.5% of all cases of craniosynostoses.

*Pathophysiology*: the genetic mutation in this condition leads to accelerated maturation of osteoblastic cells, such that during fetal development, there is premature ossification of the calvaria leading to craniosynostosis (mainly involving the coronal, sagittal and at times the lambdoidal sutures).

*Clinical considerations*: maxillary hypoplasia associated with mandibular prognathism is commonly seen. Hypertelorism and proptosis are common ophthalmologic findings. It is common to find a high arched palate with a cleft and a bifid uvula. Choanal atresia has been demonstrated in Crouzon syndrome. Central nervous system findings include mental retardation, progressive hydrocephalus with associated intracranial hypertension, and very commonly an associated chronic herniation of the cerebellar tonsils. Twenty five percent of these patients present with cervical spine fusion most commonly at the level of C2-C3. Syndactyly is considered much less severe as compared to Apert syndrome [6, 7, 17].

*Airway and anesthetic implications*: Serious airway examination is necessary in this condition. Maxillary hypoplasia may lead to poor mask fit, and visualization of the vocal cords can be difficult with standard laryngoscopy. Choanal atresia must be assessed prior to anesthesia induction. Cervical spine fusion must be evaluated preoperatively, as it can lead to difficulty with neck extension. One must also be mindful of intracranial pressure in the setting of progressive hydrocephalus and chronic tonsillar herniation. Depending on the degree of mental retardation, separation from family may pose a challenge. Difficult airway management is to be expected. Maintenance of spontaneous ventilation and oxygenation is necessary until the airway is secured. Alternate airway management techniques must be planned and pre-arranged (video laryngoscope, fiberoptic intubation, and laryngeal mask airway). A pre-operative echocardiograph is necessary, along with certain intraoperative management measures depending on the cardiac anomaly involved. Special consideration must include eyes protection in the setting of proptosis. Large bore intravenous access must be considered for major surgeries. In case of cranial vault reconstruction for craniosynostosis repair, the anesthesiologist must be mindful of the possibility of venous air embolism [1, 21, 22].
