Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features.
BACKGROUND
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.


OBJECTIVE
To describe the diagnostic radiographic features seen in Pacman dysplasia, a distinct autosomal recessive, lethal skeletal dysplasia.


METHODS
We present the fourth reported case of Pacman dysplasia and compare the findings seen in our patient with the three previously described patients.


RESULTS
Invariable and variable radiographic findings were seen in all four cases of histologically proven Pacman dysplasia.


CONCLUSIONS
Pacman dysplasia presents both constant and variable diagnostic radiographic features.
Miller
Stephen F
SF
Department of Radiology, Children's Hospital of the King's Daughters, Norfolk, VA 23507, USA. stephen.miller@sickkids.ca
Proud
Virginia K
VK
Werner
Alice L
AL
Field
Fiona M
FM
Wilcox
William F
WF
Lachman
Ralph S
RS
Rimoin
David L
DL
D001842:Bone and Bones / Q000000981:diagnostic imaging*; D002806:Chondrodysplasia Punctata / Q000151:congenital* / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography