[MIM 226 960]

Very rare. Autosomal recessive transmission.

Association of:

-        epiphyseal dysplasia causing a coxa vara

-        short stature

-        microcephaly with variable degrees of intellectual deficit

Sometimes retinitis pigmentosa and congenital nystagmus

Anesthetic implications: 

short stature, intellectual deficit

References : 

Updated: February 2018