Epiphyseal stippling-osteoclastic hyperplasia syndrome
Synonyms: Pacman dysplasia
A rare primary bone dysplasia characterized by extensive epiphyseal tarsal spinal and sometimes metacarpal and/or phalangeal stippling severe generalized osteopenia vertebral clefting platyspondyly bowing and shortening of the long bones and variable periosteal cloaking. Laboratory analysis of lysosomal enzymes reveals normal activity. Histopathology shows numerous giant multinucleated osteoclasts lining Howship lacunae consistent with increased bone resorption. The condition manifests prenatally and is presumably lethal in the perinatal period.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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