[MIM 603 457]

(Bosma-Henkin-Christiaesen syndrome, BAMS)

Rare. Autosomal dominant transmission with variable penetrance of a mutation of the SMCHD1 gene (18p11.2).

Association of:

• severe nasal hypoplasia
• ocular hypoplasia: anophthalmia, coloboma, imperforation of the lacrimal ducts
• hyposmia, hypogeusia
• hypogonadotropic hypogonadism (pubertal delay)
• palatal abnormalities: hypoplasia of the midface, high-arched or cleft palate
• normal intelligence

Tracheotomy or creation of a nasopharyngeal passage in the neonatal period, and complex reconstructive surgery around 5 years of age or late adolescence.

Anesthetic implications: 

respiratory distress at birth as in case of choanal atresia: an oropharyngeal cannula is often necessary; a temporary tracheotomy (with or without gastrostomy) is often required to ensure proper ventilation and feeding during the first months of life. Difficult mask ventilation and intubation. MRI to rule out the presence of brain abnormalities.

References : 

-          Abukhalaf SA, Zalloum JS, Al Hammouri A, Abu Mayaleh A.
Congenital arrhinia : a case report and literature review.
Int J Pediatr Otorhinolaryngol 2020 ; 135 : in press

Updated: September 2020