Dystrophy, thanatophoric

(thanatophoric dwarfism)

Rare: 1/20,000 to 1/50.0000. Form of skeletal dysplasia usually lethal in the neonatal period. Transmission: autosomal dominant of a mutation  (but all reported cases are de novo mutations) of the FGFR3 gene (4p16.3) coding for the receptor of the fibroblast growth factor 3. The main features of this pathology are: macrocephaly with a wide fontanel, a narrow "Bell shaped" chest, a trunk of normal length and severe shortening of limbs (micromelia). There are also: a flat face, platyspondyly of vertebrae, brachydactyly.

Various types:

-        type I, the most common: skull of normal shape and curved long bones (particularly the femurs)

-        type II: cloverleaf skull and straight femur.


The causes of death in the neonatal period are respiratory failure (pulmonary hypoplasia) or compression of the brainstem.


Anesthetic implications: 

difficult venous access and intubation. Risk of compression of the brainstem, respiratory failure.


References : 

-        Thompson DR, Browd SR, Sangaré Y, Rowell JC, Slimp JC, Haberkern CM. 
Anesthetic management of an infant with thanatophoric dysplasia for suboccipital decompression. 
Pediatr Anesth 2011 ; 21 : 92-4.


Updated: August 2022