Form of spondyloepimetaphyseal dysplasia.

4 forms have been identified:

-        autosomal recessive transmission of a mutation of the PAPSS2 gene (10q24) [MIM 271 630]: type 1 or 4, Hobaek type (in case of corneal opacities and calcification of the costal cartilage) or Toledo type

-        autosomal recessive transmission of a still unknown gene mutation: type 2 or type Maroteaux [MIM 613 678]

-        autosomal dominant transmission of a mutation of the TRPV4 gene (12q24.1) [MIM 113 500]: type 3

-        autosomal recessive transmission of a mutation of the LTBP3 gene (11q13.1) or brachyolmia-amelogenesis imperfecta syndrome (Verloes-Bourguignon syndrome) [MIM 601 216] where platyspondyly is associated with enamel abnormalities

Clinical presentation:

• predominant short trunk with frequent kyphoscoliosis (platyspondyly)
• slightly short hands
• delayed bone maturation is often observed.

The vertebral X-ray is pathognomonic: on the A-P view, the vertebral body spreads out of the pedicles; on the profile view: platyspondyly with flattening of the middle part of the vertebral plateaus.

Anesthetic implications: 

see Spondyloepimetaphyseal dysplasias

References :  

Updated: February 2023