[source]
pmid = PMID:27330822
title = A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia
[diagnosis]
disease_id = OMIM:177170
disease_label = Pseudoachondroplasia
[text]
The proband (II-1) was 3 years old and 77 cm tall. He had strikingly short limbs (upper limb length 42 cm and lower limb length 33 cm), small hands, short fingers and a waddling gait.
A lateral spine radiograph (Figure 2a) showed anterior beaking of the vertebrae and platyspondyly.
The pelvis radiograph (Figure 2c) showed small femoral heads, irregular acetabulae, enlarged acetabular angles and a widened symphysis pubis.
Radiographs further indicated epiphyseal and metaphyseal changes in the joints of the long and short tubular bones including the femur, tibia, fibula, ulna and radius (Figure 2b,d).
(a) Radiograph showing anterior beaking of the vertebral bodies. (b) Radiograph of knees. (c) Radiograph showing small femoral heads, flared metaphyseal borders and widened symphysis pubis.