Orthopedics - Oleksa A.P. 2006

Joint Pathophysiology
Developmental Defects and Congenital Skeletal Anomalies
Pseudochondroplasia (Pseudochondroplastic Dysplasia)

This form of rhizomelic dwarfism shares the Clinical Features of Achondroplasia, with the exception of normally developed HEAD and facial structures.

Pseudoachondroplasia belongs to the achondroplastic type of Spondyloepiphyseal Dysplasia, exhibiting characteristics of both spondyloepiphyseal dysplasia and achondroplasia. The genetic Inheritance of the disorder has been established and can be either autosomal dominant or recessive, with varying degrees of clinical expressivity.

Initially, the child develops normally, but between the second and third years of life, growth retardation becomes apparent, manifesting as short stature. The child presents with a relatively long trunk and a progressively increasing lumbar lordosis, while radiographic examination reveals platyspondyly. The limbs remain shortened, and epiphyseal and metaphyseal changes occur in all long bones, particularly affecting the proximal and distal ossification centers of the femurs. Consequently, joint incongruity and deformity develop, frequently necessitating surgical intervention.



Last update: 10/08/2026

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