Total: 2 |
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PMID (PMCID) | ||
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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. |
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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. |