Form of spondyloepimetaphyseal dysplasia. Autosomal recessive transmission of a mutation of the INPPL1 gene (11q13.4).
Clinical presentation:
- short stature from birth with rhizomelic micromelia (short limbs, feet and hands), sausage-shaped fingers
- broad fontanels, broad forehead (pseudomacrocephaly), elongated philtrum, anteverted nostrils
- narrow chest and large abdomen
- platyspondyly
- delayed bone maturation: enlarged epiphyses and phalanges
Early death from respiratory distress is common. Severe statural development delay with kyphoscoliosis and deformities of the lower limbs.
Anesthetic implications:
see Spondyloepimetaphyseal dysplasias
References :
- Lewis LES, Bhat RY, Naik P, Sethi K, Girisha KM.
Opsismodysplasia.
Indian J Pediatr 2010; 77 : 567-8
Updated: February 2023