Ontology highlight
ABSTRACT:
SUBMITTER: Al Kaissi A
PROVIDER: S-EPMC6344193 | biostudies-literature | 2019 Jan
REPOSITORIES: biostudies-literature
Al Kaissi Ali A Ryabykh Sergey S Pavlova Olga M OM Ochirova Polina P Kenis Vladimir V Chehida Farid Ben FB Ganger Rudolf R Grill Franz F Kircher Susanne Gerit SG
Medicine 20190101 1
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant disorder, characterized by disproportionate dwarfism with short spine, short neck associated with variable degrees of coxa vara. Cervical cord compression is the most hazardous skeletal deformity in patients with SEDC which requires special attention and management.Ten patients with the clinical and the radiographic phenotypes of spondyloepiphyseal dysplasia congenita have been recognized and the genotype was compatible with ...[more]