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

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.

SUBMITTER: Mangaraj S

PROVIDER: S-EPMC5726223 | biostudies-literature | 2017 May-Aug

REPOSITORIES: biostudies-literature

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

Mangaraj Swayamsidha S Choudhury Arun Kumar AK Singh Mamata M Patro Debasish D Baliarsinha Anoj Kumar AK

Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases 20170501 2

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 odont ...[more]

PMID: 29263747

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Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report.

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