PMCCPMCCPMCC

Search tips
Search criteria 

Advanced

 
Logo of jmedgeneJournal of Medical GeneticsCurrent TOCInstructions for authors
 
J Med Genet. Jul 1994; 31(7): 565–569.
PMCID: PMC1049981
Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.
C G Woods, J G Rogers, and V Mayne
Victorian Clinical Genetics Service, Murdoch Institute, Royal Children's Hospital, Parkville, Melbourne, Australia.
Abstract
We report a family in which two sibs have both achondroplasia and pseudoachondroplastic dysplasia. The mother has achondroplasia and the father has pseudoachondroplastic dysplasia, which he had inherited from his father. Both children appeared typical of achondroplasia at birth. By 1 1/2 years they had developed a fixed lumbar kyphosis with gibbus and had additional x ray changes unusual for just achondroplasia and suggestive of pseudoachondroplastic dysplasia. Subsequently both children have shown characteristic features of both conditions and have grown less well than expected for achondroplasia. Radiographs show the striking synergistic effects of the two conditions. MRI in both sibs confirmed brain stem compression at the foramen magnum. This may be an important complication and should be actively sought in any double heterozygote.
Full text
Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1.6M), or click on a page image below to browse page by page.
Images in this article
Click on the image to see a larger version.
Articles from Journal of Medical Genetics are provided here courtesy of
BMJ Group