Radial ray hypoplasia choanal atresia
Other Names: Radial ray hypoplasia and choanal atresia; Goldblatt-Viljoen syndrome
An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.
Epidemiology[edit | edit source]
It has been reported in a father and his two daughters.
Signs and symptoms[edit | edit source]
The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb.
Inheritance[edit | edit source]
The condition is most probably hereditary, transmitted as an autosomal dominant trait.
NIH genetic and rare disease info[edit source]
Radial ray hypoplasia choanal atresia is a rare disease.
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