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).

Scoliosis

The presence of an abnormal lateral curvature of the spine.


Total: 3

                       


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PMID (PMCID)
9217227
 FEMALE Infant, Newborn
Pseudodiastrophic dysplasia type Burgio in a newborn.
Fischetto R, Causio F, Corso G, Lillo V, Natale B, Papadia F.
Am J Med Genet. 1997;71(2):222-5.
Pseudodiastrophic dysplasia is a distinct disorder that differs from diastrophic dysplasia on the basis of elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis.
7778595
 MIXED_SAMPLE
Histopathology of fetal diastrophic dysplasia.
Qureshi F, Jacques SM, Johnson SF, Johnson MP, Hume RF, Evans MI, Yang SS.
Am J Med Genet. 1995;56(3):300-3.
Manifestations of typical diastrophic dysplasia in infants and older patients include abnormal pinnae, scoliosis, and joint contractures; these were absent in the fetuses, in keeping with the tendency for the clinical and radiologic aspects of this disease to become more severe with age.
3761077
 MIXED_SAMPLE Infant, Newborn
Pseudodiastrophic dysplasia: a distinct newborn skeletal dysplasia.
Eteson DJ, Beluffi G, Burgio GR, Belloni C, Lachman RS, Rimoin DL.
J Pediatr. 1986;109(4):635-41.
In addition to the rhizomelic shortening of the limbs and severe clubfoot deformity, which suggest the diagnosis of diastrophic dysplasia, distinguishing features are elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis, which are observed in infancy.