| Literature DB >> 29263747 |
Swayamsidha Mangaraj1, Arun Kumar Choudhury1, Mamata Singh2, Debasish Patro1, Anoj Kumar Baliarsinha1.
Abstract
Spondylocarpotarsal synostosis is a very rare skeletal disorder characterized by vertebral malsegmentation defects. Apart from severe vertebral defects, the disease is associated with carpal and tarsal synostosis which is quite characteristic for the disease. 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.Entities:
Keywords: carpal fusion; odontoid aplasia; skeletal dysplasia; spondylocarpotarsal synostosis; tarsal fusion
Year: 2017 PMID: 29263747 PMCID: PMC5726223 DOI: 10.11138/ccmbm/2017.14.2.258
Source DB: PubMed Journal: Clin Cases Miner Bone Metab ISSN: 1724-8914