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).

Skeletal dysplasia

A general term describing features characterized by abnormal development of bones and connective tissues.


Total: 3

                       


(per page)
PMID (PMCID)
19144099
(2648951)
 OTHER
Advanced ossification of the carpal bones, and monkey wrench appearance of the femora, features suggestive of a propable mild form of desbeqious dysplasia: a case report and review of the literature.
Al Kaissi A, Radler C, Klaushofer K, Grill F.
Cases J. 2009;2(1):45.
[corrected] Advanced bone maturation is a radiographic feature that might be encountered in a number of different forms of skeletal dysplasias such as Desbuquois dyspalsia, Larsen syndrome, the Reunion Island form of Larsen syndrome, diastrophic dysplasia, acrodysostosis, Catel-Manzke syndrome, a variant of metatropic dysplasia and Maroteaux-lamy syndrome.
12966518
 MIXED_SAMPLE Child
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
Makitie O, Savarirayan R, Bonafe L, Robertson S, Susic M, Superti-Furga A, Cole WG.
Am J Med Genet A. 2003;122A(3):187-92.
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene result in a family of skeletal dysplasias, which comprise lethal (achondrogenesis type 1B and atelosteogenesis type 2) and non-lethal conditions (diastrophic dysplasia and recessive multiple epiphyseal dysplasia (rMED)).
11857516
 MIXED_SAMPLE Infant, Newborn
Prenatal sonographic diagnosis of diastrophic dwarfism.
Tongsong T, Wanapirak C, Sirichotiyakul S, Chanprapaph P.
J Clin Ultrasound. 2002;30(2):103-5.
On the basis of these sonographic findings, we diagnosed skeletal dysplasia and short-limbed dwarfism, most likely diastrophic dwarfism.