(atelosteogenesis)

Rare: about 1/100,000. Form of osteochondrodysplasia. Classic form [MIM 150 250]: autosomal dominant transmission ofmutations of the FLNB gene (filamin B) on 3p14.3. Association of:

-        congenital dislocation of large joints and clubfeet.

-        facial dysmorphism: flat facies (flat nasal bridge), hypertelorism, cleft palate, large forehead

-        laryngo-tracheo-bronchomalacia

-        fingers in spatula (especially the thumb)

-        kyphoscoliosis, with anomalies of segmentation of the vertebrae (risk of instability of the cervical spine by vertebral hypoplasia).

There is often an associated congenital heart defect (ASD, VSD, cardiomyopathy).

The recessive form [MIM 245 600] is associated with a mutation of the  B3GAT3 gene (11q12.3) and is similar to other spondyloepimetaphyseal dysplasias (see this topic) such as the Oman type. It is often associated a cleft palate, a short stature and respiratory failure due to the lack of rigidity of the ribcage.

Anesthetic implications:

instability of the cervical spine: preoperative radiological assessment. Difficult intubation,  subglottic stenosis. A poorly documented case of intraoperative hyperthermia qualified as malignant

References : 

-           Tobias JD. 
Anesthetic implications of Larsen syndrome. J Clin Anesth 1996; 8:255-7.

• Lauder GR, Sumner E. 
  Larsen's syndrome: anaesthetic implications. Six case reports. 
  Paediatr Anaesth 1995; 5:133-8.
• Malik P, Choudry DK. 
  Larsen syndrome and its anaesthetic considerations. 
  Paediatr Anaesth 2002; 12: 632-6.
• Ghaffaripour S, Ghahramaninejad F, Shahbazi S. 
  Malignant hyperthermia in Larsen syndrome. 
  Pediatr Anesth 2009 ; 19 : 927-8.

• Rai A, Trikha A, Kumar A, Chandran R.
  Supraglottic airway and caudal epidural for anesthetic management of a child with Larsen syndrome.
  J Anaesthesiol Clin Pharmacol 2016; 32: 266-7.

Updated: February 2019