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).

Platyspondyly

A flattened vertebral body shape with reduced distance between the vertebral endplates.


Total: 2

                       


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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.
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.