New type of autosomal recessive short-limb dwarfism with absent fibulae, exceptionally short digits, and normal intelligence.
Short-limb dwarfism is of heterogeneous origin and has various clinical manifestations. This communication describes a previously apparently unreported type of short-limb dwarfism in 3 affected sibs. Characteristics of this syndrome are bilateral absence of fibulae and severe abnormalities of all digits.
Kohn
G
G
Institute of Medical Genetics, Edith Wolfson Medical Center, Holon, Israel.
Veder
M
M
Schoenfeld
A
A
el Shawwa
R
R
D002648:Child; D002675:Child, Preschool; D004392:Dwarfism / Q000235:genetics* / Q000473:pathology; D005260:Female; D005360:Fibula / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D006801:Humans; D007360:Intelligence; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014034:Toes / Q000002:abnormalities*