[MIM 603 457]

(Bosma syndrome)

A few reported cases. Association of arrhinia, choanal atresia, microphthalmia, cleft palate. Also: anosmia and loss of taste and sometimes hypogonadism. Intelligence is normal.

Anesthetic implications: 

respiratory distress at birth like for  choanal atresia: an oropharyngeal airway is often necessary. A temporary tracheotomy is often necessary (with or without gastrostomy) to ensure ventilation and proper nutrition during the first months of life. Ventilation by mask and intubation can be difficult. MRI to exclude the presence of cerebral malformations.

References : 

•        Goyal A, Agrawal V, Raina VK, Sharma D. 
  Congenital arhinia: a rare case. 
  J Indian Assoc Pediatr Surgeons 2008; 13: 153-4.

Updated: November 2019