Diastrophic dwarfism

A rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

Cervical kyphosis

Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.


Total: 3

                       


(per page)
PMID (PMCID)
26692703
(4660502)
 OTHER
Cervical spine surgery in patients with diastrophic dysplasia: Case report with long-term follow-up.
Jasiewicz B, Potaczek T, Duda S, Tsiorowski M.
J Craniovertebr Junction Spine. 2015;6(4):216-8.
Cervical kyphosis in diastrophic dysplasia (DTD) is a very dangerous deformity which may lead to compression of neural structures resulting in tetraplegia or even.
19829852
(2740093)
 OTHER
Significant traumatic atrophy of the spinal cord in connection with severe cervical vertebral body hypoplasia in a boy with Larsen syndrome: a case report and review of the literature.
Al Kaissi A, Altenhuber J, Grill F, Klaushofer K.
Cases J. 2009;2:6729.
Congenital or developmental cervical kyphosis is a serious orthopaedic abnormality, which is associated with several syndromic associations such as Larsen syndrome, diastrophic dysplasia, chondrodysplasia punctata, camptomelic dysplasia, and neurofibromatosis.
3601466
 MALE
Cervical kyphosis in diastrophic dwarfism: CT and MR findings.
Krecak J, Starshak RJ.
Pediatr Radiol. 1987;17(4):321-2.
Cervical kyphosis in diastrophic dwarfism: CT and MR findings.