[MIM 275 400]

(Trichomegaly - pigmentary retinal degeneration -growth retardation)

Extremely rare. Autosomal recessive transmission.

Association of:

-        a short stature present from birth

-        very long eyelashes and eyebrows associated with progressive alopecia (often complete at full growth)

-        moderate mental retardation

-        retinitis pigmentosa

-        sometimes, progressive muscular atrophy

Anesthetic implications:

short stature, mental retardation, visual impairement

References : 

Updated: November 2018