Spondylometaphyseal dysplasia- Kozlowski type
Overview
Spondylometaphyseal dysplasia, Kozlowski type: A rare genetic disorder characterized by reduced calcification of the spine and pelvis resulting in short stature.
Symptoms
* Growth deficiency * Short trunk * Short neck * Short spine * Dorsal kyphosis * Generalized platyspondyly * Odontoid hypoplasia * Pectus carinatum * Squarish iliac wings * Short iliac wings * Flat acetabula * Irregular acetabula * Irregular metaphyses * Hypoplastic carpal bones * Late calcification of carpal bones * Waddling gait * Limited joint mobility * Degenerative joint changes * Joint pain
Causes
* Growth deficiency * Joint pain * Limited joint mobility * Pectus carinatum * Short neck * Short trunk * Waddling gait