Achromatopsia

A rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.

Small hand

Disproportionately small hand.


Total: 1

                       


(per page)
PMID (PMCID)
1347967
 FEMALE Infant, Newborn
Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.
Pentao L, Lewis RA, Ledbetter DH, Patel PI, Lupski JR.
Am J Hum Genet. 1992;50(4):690-9.
A 20-year-old white female with rod monochromacy presented with short stature (less than 5th percentile), mild developmental delay, premature puberty, small hands and feet (length less than 5th percentile), minimal dysmorphism, and a reproductive history of three consecutive first-trimester miscarriages.