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Otocephaly
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Estimated incidence: < 1/70.000 births. Severe congenital malformative pathology due to a major failure of migration of certain elements of the branchial arches. Autosomal recessive transmission of mutations of the PRRX1 gene on 1q24.2 ?
One can find:
- hypoplasia of the mandible (agnathia)
- microstomia with frequent aglossia
- malposition of the ears that did not migrate in a cranial position: they are therefore in a caudal position , i.e. at the level of the cheeks, or in the center of the lower part of the face (melotia), and sometimes fused (synotia). Cyclopia is frequently associated.
Other elements are often associated:
- holoprosencephaly (see this term)
- cleft lip or palate
- cardiac, skeletal and urogenital malformations
- abdominal situs inversus
This disease is lethal in the majority of cases: only a few cases have survived with a tracheotomy, a gastrostomy, and multiple interventions on the mandible.
Anesthetic implications:
in case of antenatal diagnosis, birth under EXIT (ex-utero intrapartum treatment) ? Difficult or even impossible mask ventilation/intubation; emergency tracheotomy; neonatal palliative care .
References :
- Faye-Petersen O, David E, Rangwala N, Seaman JP, Hua Z, Heller DS.
Otocephaly : report of five new cases and literature review.
Fetal Pediatr Pathol 2006; 25: 277-96.
- Diep J, Kam D, Munir F, Shulman SM, Atlas G.
Otocephaly complex: case report, literature review and ethical considerations.
A &A Case Reports 2016; 7: 44-8.
- Baker PA, Aftimos S, Anderson BJ.
Airway management during an EXIT procedure for a fetus with dysgnathia complex.
Pediatr Anesth 2004; 14: 781-6
- Golinko MS, Shetye P, Flores RL, Staffenberg DA.
Severe agnathia-otocephaly complex: surgical treatment and longitudinal follow-up from birth through adulthood.
J Craniofac Surg 2015; 26: 2387-92.
Updated: November 2016