Generalized skeletal dysplasia with multiple anomalies. A note on Pyle's disease
Taybi, H.
American Journal of Roentgenology Radium Therapy and Nuclear Medicine 88: 450-457
1962
ISSN/ISBN: 0002-9580 PMID: 13919903 Document Number: 9038
1. An unusual generalized osseous dysplasia with multiple anomalies is reported. These anomalies include, dwarfism, deformity and increase in density of skull, delayed closure of anterior fontanel, dislocation of hips and elbows, and deformities of chest, hands, and feet. 2. The differential diagnosis from other entities is considered. 3. The resemblance of cranial manifestations in this case to those of craniometaphyseal dysplasia is discussed, and the suggestion is made that this latter entity be named Pyle-Cohn's disease in recognition of Cohn's first complete description of this condition, including the cranial manifestations.
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