Cheirolumbar dysostosis: a phenotype of pseudohypoparathyroidism.
Cheirolumbar dysostosis is a skeletal dysplasia characterized by brachydactyly and stenosis of the lumbar vertebral canal. Our recent experience with a patient having these clinical features indicates that this condition may be a phenotype of pseudohypoparathyroidism, rather than a distinct entity.
D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D010641:Phenotype; D011547:Pseudohypoparathyroidism / Q000175:diagnosis*; D011859:Radiography; D013130:Spinal Stenosis / Q000000981:diagnostic imaging*