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Document Details :
Title: Een peuter met een vertraagde motorische ontwikkelingen een afbuigende lengtegroei
Author(s): VOETEN M, VAN COSTER R, MORTIER G
Journal: Tijdschrift voor Geneeskunde
Volume: 70 Issue: 8 Date: 2014
A toddler with a delayed motor development and height retardation
The medical history of a toddler with walking delay and muscle weakness as the presenting features of pseudoachondroplasia, is reported. Pseudoachondroplasia is a rare, autosomal dominant skeletal dysplasia. It is characterized by a normal length at birth and a normal face, which differentiate the disorder from achondroplasia. Frequent clinical features in the initial stage are walking difficulties, genua vara or valga and ligamentous laxity of the finger and knee joints. Around the age of two, the growth rate falls below the standard growth curve, leading to a disproportionate short stature with short limbs. The mean adult height lies around 116 cm for females and 120 cm for males.
The disorder is caused by a mutation in the gene encoding for COMP (cartilage oligomeric matrix protein), which leads to an abnormal structure of the cartilage, the tendons, the muscles and the ligaments. This degenerative joint disease is progressive and can be seen as a major, long-term problem reducing the quality of life. The management therapy is supportive.