Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features

Punctate or stippled cartilaginous calcifications are associated with many conditions, including chromosomal, infectious, endocrine, and teratogenic etiologies. Some of these conditions are clinically mild, while others are lethal. Accurate diagnosis can prove instrumental in clinical management and...

Full description

Saved in:
Bibliographic Details
Published in:Pediatric radiology 2003-04, Vol.33 (4), p.256-260
Main Authors: MILLER, Stephen F, PROUD, Virginia K, WERNER, Alice L, FIELD, Fiona M, WILCOX, William F, LACHMAN, Ralph S, RIMOIN, David L
Format: Article
Language:English
Subjects:
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Punctate or stippled cartilaginous calcifications are associated with many conditions, including chromosomal, infectious, endocrine, and teratogenic etiologies. Some of these conditions are clinically mild, while others are lethal. Accurate diagnosis can prove instrumental in clinical management and in genetic counseling. To describe the diagnostic radiographic features seen in Pacman dysplasia, a distinct autosomal recessive, lethal skeletal dysplasia. We present the fourth reported case of Pacman dysplasia and compare the findings seen in our patient with the three previously described patients. Invariable and variable radiographic findings were seen in all four cases of histologically proven Pacman dysplasia. Pacman dysplasia presents both constant and variable diagnostic radiographic features.
ISSN:0301-0449
1432-1998
DOI:10.1007/s00247-002-0859-4