Unique hereditary sensory and autonomic neuropathy with growth hormone deficiency.
The proband, a French-Canadian white boy, presented with congenital sensory polyneuropathy, moderate to severe sensorineural hearing loss, infantile cataracts, nystagmus, esotropia, unusual facies, hypotonia, bilateral congenital hip dysplasia, delayed ossification of the femoral heads, scoliosis, short stature secondary to growth hormone deficiency, and developmental delay. His parents are consanguineous. His maternal first cousin, a 16-year-old girl, has congenital sensory polyneuropathy, infantile cataracts, unusual facies, scoliosis, short stature secondary to growth hormone deficiency, late-childhood-onset arthritis, and hypoglycemia. Reportedly, she has no hearing difficulties and has normal intelligence. Her parents are third cousins. These children appear to have a distinct variant of hereditary sensory and autonomic neuropathy with infantile cataracts, unusual facies, skeletal dysplasia, short stature secondary to growth hormone deficiency, and other features, with probable autosomal recessive inheritance.
Liberfarb
R M
RM
Schepens Eye Research Institute, Medical Unit, Boston, MA.
Jackson
A H
AH
Eavey
R D
RD
Robb
R M
RM
D000293:Adolescent; D002386:Cataract / Q000235:genetics*; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000145:classification / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male