Grebe chondrodysplasia and similar forms of severe short-limbed dwarfism.
We have studied three patients with severe short-limbed dwarfism, only one of whom had the typical features of Grebe disease, whereas the other two had clearly distinct previously unreported skeletal dysplasias. Unlike the patients with Grebe disease, the latter two patients had involvement of the spine and particularly short humeri. The malformations of the hands and lower limbs were different in each of the three patients.
D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D017880:Limb Deformities, Congenital; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis