Abstract
In 1974, Burgio et al. described pseudodiastrophic dysplasia (PDD) as a distinct neonatal skeletal dysplasia which superficially resembled diastrophic dysplasia (DD). The two sisters reported died in infancy of unexplained hyperthermia. A third case, reported by Canki in 1979, also died in infancy.
We wish to report three new, unrelated cases of PDD, including two children who have survived infancy, the oldest now 4 years old. Clinical features include: relative macrocephaly, flat midface, abnormal pinnae which do not undergo cystic enlargment, small chest, scoliosis, rhizomelia, flexion contractures of the hands, and club feet. Unique radiographic features include proximal interphalangeal joint dislocations and platyspondyly. The metacarpals are short but normally modelled. In the older children, the hand and foot abnormalities have improved with physical therapy alone, which also distinguishes PDD from DD. Scoliosis has been progressive, and the oldest child has recently undergone spinal rodding.
Morphologic examination of chondro-osseous growth plate of one of the original cases and our oldest patient revealed non-specific changes. The focal degeneration of cartilage with intra-cartilaginous ossification characteristic of DD was not seen. The pathogenesis of this unique, apparently autosomal recessive, neonatal skeletal dysplasia remains to be elucidated.
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Eteson, D., Beluffi, G., Belloni, C. et al. PSEUDODIASTROPHIC DYSPLASIA: A DISTINCT NEONATAL SKELETAL DYSPLASIA. Pediatr Res 18 (Suppl 4), 304 (1984). https://doi.org/10.1203/00006450-198404001-01265
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DOI: https://doi.org/10.1203/00006450-198404001-01265