Spondylocarpotarsal synostosis syndrome. A rare case of short stature and congenital scoliosis.

We report a case of young child who presented with short stature and congenital scoliosis. The radiological and clinical findings were compatible with the above diagnosis. Apart from the classical findings, the patient had evidence of odontoid aplasia which has not earlier been described in association with this disorder. We report this case for rarity of this disorder and the associated novel finding. PMID: 29263747 [PubMed]
Source: Clinical Cases in Mineral and Bone Metabolism - Category: Orthopaedics Tags: Clin Cases Miner Bone Metab Source Type: research