Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis.
Forty-eight patients with achondroplasia and 24 with hypochondroplasia have been reviewed in order to clarify the differences between the two disorders and establish the height, body proportions and other clinical and radiological variations within each group. Some of the "classical" findings in achondroplasia are not always present, and hypochondroplasia at its most severe is indistinguishable from achondroplasia at its least severe. The frequency of spinal stenosis and neurological complications was established in an unselected group of 27 achondroplastic and 12 hypochondroplastic patients aged 10 years and over. Only three of the former were free of symptoms but only three developed serious complications (11 per cent). Measurement of radiographs of the lumbar canal did not in general correlate well with the severity of spinal stenosis symptoms, but it was found that the ratio of interpedicular distances at the first and fourth lumbar vertebrae had some value. Neurological complications were rare in patients with simple narrowing of the spinal canal or with persistence of a thoracolumbar kyphos but when these occurred together there was a high risk of serious neurological involvement.
D000130:Achondroplasia / Q000150:complications / Q000175:diagnosis*; D000293:Adolescent; D001827:Body Height; D002648:Child; D004392:Dwarfism / Q000150:complications / Q000175:diagnosis*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008297:Male; D011859:Radiography; D013115:Spinal Canal / Q000000981:diagnostic imaging; D013117:Spinal Cord Compression / Q000209:etiology*