Hypochondroplasia

Abstract

The report describes two observations of hypochondroplasia. The first case was a familial occurrence, in a father and two daughters of preschool age. The basic symptom that had led to the determination of dysplasia was the shape of the pelvis with a supraacetabular ossification defect of the iliac bones. The other bone changes were compatible with hypochondroplasia. In both children the examination showed retarded bone maturation with ossification changes, especially in the older one. The second observation demonstrated the prevalence of skeletal changes in the acral parts of the extremities without a marked manifestation on the long bones of the extremity and with an inconsiderable finding of an ossification developmental disorder of the axial skeleton.