[Kniest's disease. Metatropic dwarfism (author's transl)].
A new case of Kniest's Disease (bone dysplasia, retinal detachment and deafness), the first one in Spanish medical literature, is reported. Clinical and radiological considerations are made. Finally genetic theories of transmision and diagnosis of the disease are discussed.
D001848:Bone Diseases, Developmental / Q000175:diagnosis*; D002675:Child, Preschool; D003638:Deafness / Q000175:diagnosis*; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis*; D005260:Female; D006801:Humans; D012163:Retinal Detachment / Q000175:diagnosis*; D013577:Syndrome
Enfermedad de Kniest