13. Congenital Syndromes and Conditions

Prani Shrivastava¹ and Dana Weber¹

(1)

Department of Anaesthesia and Pain Management, Perth Children’s Hospital, Nedlands, WA, Australia

Prani Shrivastava (Corresponding author)

Email: Prani.Shrivastava@health.wa.gov.au

Dana Weber

Email: dana.weber@health.wa.gov.au

Keywords

Anesthesia for Robin sequenceTrisomy 21 anesthesiaAnesthesia children achondroplasiaCervical spine and anesthesia of childrenAirway obstruction, infant

13.1 Robin Sequence

Robin sequence (formerly Pierre Robin) is a clinical triad of micrognathia, glossoptosis and airway obstruction often in association with cleft palate. Mandibular hypoplasia in the first trimester causes the tongue to be in a superior position, preventing midline fusion of the palatal shelves. Robin sequence may occur alone or in association with many syndromes, most often Stickler, velocardiofacial and fetal alcohol spectrum disorder. It occurs in 1 in 8500 births.

The baby’s small jaw causes airway obstruction, sometimes even while the baby is awake. Some are nursed prone to help the tongue fall away from the back of the pharynx, and occasionally they need tracheostomy soon after birth. The jaw grows along with the baby, and eventually the amount of space within the oral cavity is sufficient to avoid airway obstruction. Other organ systems may be affected either from associated syndromes or secondary to chronic upper airway obstruction. However, the main problem for anesthesia is the airway and difficulty with intubation during infancy and early childhood.

Note

It’s Robin sequence because a single event, mandibular hypoplasia, sets off a sequence causing the other signs. A syndrome has multiple, independent anomalies.

13.1.1 Anesthetic Implications

Anesthesia may be required either during the neonatal period for intubation or tracheostomy, or during infancy for cleft palate repair or mandibular advancement. The mid face and mandible grow in the first years of life, and so by primary school age the mandibular profile may be near normal with an improved airway.

The most important aspect of airway assessment is jaw size—the smaller it is, the more difficult airway management will be. Having to nurse the child prone or use a nasal airway even while awake are indicators of more severe forms. The LMA reliably provides a clear airway as the obstruction is at the level of the oropharynx and this is bypassed by the LMA. Anesthesia management therefore usually involves inhalational induction and intubation aided with a videolaryngoscope. A scope with a curved, hyperangulated blade would be best (see Chap. 4, Sect. 4.12.3). Another technique is to use an LMA used as a conduit for fiber optic intubation. Some neonates with severe Robin sequence needing tracheostomy have the airway topicalized and the LMA inserted awake.

Keypoint

The small jaw size in Robin sequence is the key. It prevents the tongue fitting within the oral cavity, causing airway obstruction and preventing the tongue being compressed enough to visualize the larynx at intubation. As the jaw grows, the airway improves.

13.2 Achondroplasia

Achondroplasia is the commonest cause of dwarfism. Most cases are spontaneous, with autosomal dominant inheritance of a mutation of a fibroblast growth factor receptor. The features of achondroplasia are described in Table 13.1.

Table 13.1

Features associated with achondroplasia

Organ system	Feature
Appearance	Short stature, short arms and legs with relatively long trunk Macrocephaly and frontal bossing May develop scoliosis
CNS	Tendency to develop hydrocephalus, foramen magnum stenosis and craniocervical cord compression (risk factor for sudden death during infancy)
Airway	Midface hypoplasia Choanal atresia High arched palate, macroglossia High incidence of obstructive sleep apnea Dental malocclusion, crowding
CVS	May develop pulmonary hypertension if severe untreated OSD or scoliosis