[MIM 604 213]

Very rare. Autosomal recessive transmission of a mutation of gene GPSM2  on 1p13.3.

Association of:

-        early sensorineural deafness

-        brain anomalies: hypoplasia of the corpus callosum; focal cerebellar dysplasia, nodular heterotopia, dilated ventricles (sometimes hydrocephalus)

Anesthetic implications:

deafness, mental retardation

References :

-        Nadkarni, T.D., Menon, R.K., Shah, A.H. et al.
Chudley-Mc Cullough syndrome.
Child‘s Nerv Syst 2008; 24: 541-4. 

-        Østergaard E, Pedersen VF, Skriver EB, Brøndum-NielsenK.
Brothers with Chudley–McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities.
Am J Med Genet 2004; 124A:74–8.

Updated: November 2016