[MIM 139 210]

Acronym for Laryngotracheal stenosis, Arthropathy, Prognathism and Short stature.

Very rare: 60 reported cases. De novo mutation or autosomal dominant transmission of a mutation of the SMAD4 gene (18q21.2) resulting in a decrease of TGF -ß targeting genes in fibroblasts and disorganization of the extracellular matrix. It is a phenotypic variant of the mutation responsible for Myhre syndrome (see this term).

Clinical picture:

-        round face, prognathism

-        short stature

-        thick skin with reduced joint mobility

-        brachydactyly

-        recurrent laryngotracheal cicatricial stenosis following trauma of the airway or intubation

-        sometimes: thickening of the mitral valve, constrictive pericarditis

Experimental treatment: losartan blocks  the angiotensin receptor and decreases tissular level of TGF - β. It seems to decrease the disorganization of the extracellular matrix in these patients.

Anesthetic implications:

given the major risk of cicatricial laryngotracheal stenosis (subglottic, choanal...) after any procedure inside the airways: very gentle intubation, monitor the pressure in the cuff or use an uncuffed tube. Echocardiography.

References :

-        Oldenburg MS, Frisch CD, Lindor NM, Edell ES, Kasperbauer JL, O’Brien EK.
Myhre-LAPs syndrome and intubation related airway stenosis : keys to diagnosis and critical therapeutic interventions.
Am J Otolaryngol Head Neck Medic & Surg 2015 ; 36 : 636-41

               

Updated: June 2017