Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.
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.
Victorian Clinical Genetics Service, Murdoch Institute, Royal Children's Hospital, Parkville, Melbourne, Australia.
C G
CG
Woods
J G
JG
Rogers
V
V
Mayne
D000130:Achondroplasia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D014056:Tomography, X-Ray