Epiphyseal stippling with osteoclastic hyperplasia syndrome
Pacman dysplasia has characteristics of epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. The syndrome may be inherited as an autosomal recessive trait. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal.
|DHD Diagnosis thesaurus reference set|
|SNOMED CT to Orphanet simple map||1952|
|SNOMED CT to ICD-10 extended map|
|Correlation||SNOMED CT source code to target map code correlation not specified|