(Treacher-Collins syndrome, Franceschetti-Klein syndrome, mandibuloacral-facial dysostosis)
Rare: prevalence of about 1/50,000. Genetically heterogeneous bilateral oto-mandibular dysplasia with variable clinical
expression:
- type 1: the most frequently mutated gene (> 80 %): TCOF1 (5q32-q33.1) which codes for the phosphoprotein 'treacle' which is a messenger between the nucleus and the cytoplasm: transmission is autosomal dominant but about 60 % of cases are de novo mutations
- type 2: POLR1D gene (13q12.2)
- type 3: POLR1C gene (6p21.1): some cases of autosomal recessive transmission
Characteristic face in "bird profile" with:
- bilateral and symmetrical hypoplasia of the mandible and maxilla with micrognathia (78 %)
- agenesis of the zygomatic complex (89 %),
- downward-slanting palpebral fissures.
- anotia or microtia (78 %), hypoplasia of the pinna, atresia of the auditory canal, anomaly of the chain of ossicles with transmission deafness.
- a coloboma of lower eyelid (78 %) and/or absence of eyelashes from the outer 1/3 of the lower eyelid (53 %).
Intelligence is usually normal. Sometimes: anomalies of the temporomandibular joint, cleft palate (28 %) or velar incompetence (32 %), choanal atresia; dental anomalies
Treatment: bone distraction, bone grafts; complex maxillofacial, plastic and ENT surgery. Occasionally tracheotomy if respiratory distress is important.
Anesthetic implications:
difficult intubation getting worse with age. The laryngeal mask allows ventilation (and can be used as a conduit for fiberoptic intubation) in the majority of cases, but failures have been reported. In the absence of choanal atresia, a nasopharyngeal airway is useful during induction and awakening. Hearing impairment or deafness.
References :
- Walker RWM, Ellwood J.
The management of difficult intubation in children.
Pediatr Anesth 2009; 19: 77-87. - de Beer D, Bingham R.
The child with facial abnormalities.
Curr Opin Anesthesiol 2011; 24: 282-8. - Duggan M, Ames W, Papsin B, Berdock S.
Facial nerve palsy : a complication following anaesthesia in a child with Treacher Collins syndrome.
Pediatr Anesth 2004; 14: 604-6. - Muraika L, Heyman JS, Shevchenko Y.
Fiberoptic tracheal intubation through a laryngeal mask airway in a child with Treacher Collins syndrome.
Anesth Analg 2003; 97: 1298-9.
- Hosking J, Zoanetti D, Carlyle A, Anderson P, Costi D.
Anesthesia for Treacher-Collins syndrome: a review of airway management in 240 pediatric cases.
Pediatr Anesth 2012; 22:752-8 - Kadakia S, Helman SN, Badhey AK, Saman M, Ducic Y.
Treacher Collins syndrome: the genetics of a craniofacial disease.
Int J Pediatr Otorhinolaryngol 2014; 78: 893-8.
Updated: April 2019