spondyloepiphyseal dysplasia

A heterologous group of AD or AR conditions characterized by short trunk and short limbed dwarfism, due to a defect in ossification of the epiphyseal growth plates of the vertebral bodies and proximal centers of the long bones, affecting the shoulder and pelvic girdles

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References in periodicals archive

Spondyloepiphyseal dysplasia congenita syndrome: anesthetic implications.

A case report of spondyloepiphyseal dysplasia congenita.

Identification of a novel mutation in the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita.

A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA: REPORT OF A CASE AND REVIEW OF THE LITERATURE

Nakamura et al., "A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenicdeletion of TRAPPC2," Clinical Pediatric Endocrinology, vol.

le Merrer et al., "The molecular basis of X-linked spondyloepiphyseal dysplasia tarda," American Journal of Human Genetics, vol.

Xie, "A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree," Clinica Chimica Acta, vol.

Brenner, "X-linked spondyloepiphyseal dysplasia tarda: novel and recurrent mutations in 13 European families," Human Mutation, vol.

Dilek et al., "A case of spondyloepiphyseal dysplasia tarda coexisting with osteoporosis and mimicking spondyloarthropathy," Turkish Journal of Physical Medicine and Rehabilitation, vol.

Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)

Based on further physical examination and a review of her films, a presumptive diagnosis of spondyloepiphyseal dysplasia was made.

Spondyloepiphyseal dysplasia was first described by Spranger and Wiedmann in 1966.

Spondyloepiphyseal dysplasia congenita associated with conductive hearing loss