PMID: 3761077Oct 1, 1986Paper

Pseudodiastrophic dysplasia: a distinct newborn skeletal dysplasia

The Journal of Pediatrics
D J EtesonD L Rimoin

Abstract

Pseudodiastrophic dysplasia is a distinct disorder that differs from diastrophic dysplasia on the basis of clinical, radiographic, and chondro-osseous histopathologic findings. 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. This disorder has been reported previously in three infants, all of whom died in the first year of life. Two of these were sisters, suggesting autosomal recessive inheritance. We report four new patients with this distinct skeletal dysplasia, including two children now older than 4 years of age. In both of these patients neonatal contractures have improved with physical therapy and scoliosis has progressed significantly.

References

Oct 1, 1978·The Journal of Pediatrics·W A HortonJ G Hall

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Citations

Jul 16, 2014·Molecular Genetics and Metabolism Reports·Chaya MuraliPhilippe M Campeau
Jan 13, 2016·American Journal of Medical Genetics. Part a·Patrick YapRavi Savarirayan
Jan 1, 1987·Scandinavian Journal of Rheumatology. Supplement·G R Burgio, A Martini
Aug 8, 1997·American Journal of Medical Genetics·R FischettoF Papadia
May 9, 2001·American Journal of Medical Genetics·G R Burgio
Sep 1, 1989·American Journal of Medical Genetics·J Spranger
Apr 10, 1995·American Journal of Medical Genetics·F QureshiS S Yang
Jan 29, 2020·Journal of Medical Genetics·Alicia B ByrneHamish S Scott
Dec 18, 2003·American Journal of Medical Genetics. Part a·Laurence FaivreRalph Lachman

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