[MIM 613 398]

(WABS)

Extremely rare. Result of a homozygous  or complex heterozygous mutation of the DX11 gene on 12p11. This gene codes for a helicase essential for the replication of ' DNA and its repair, as well as for the distribution of DNA into the daughter cells during cell division.

Clinical presentation:

-        mental retardation of varying severity

-        pre- and especially postnatal stunting

-        microcephaly and dysmorphism: elongated face, bilateral epicanthus, broad mouth, ears in wells, narrow nostrils

-        arched palate, flat philtrum and important cheeks

-        sensorineural deafness

-        cardiac malformation: VSD

-        syndactyly and clinodactyly, single palmar crease

Anesthetic implications:

mental retardation, microcephaly, echocardiography

References : 

         

Updated: September 2018