title: Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features.
abstract: 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.
authors.affiliation: Department of Radiology, Children's Hospital of the King's Daughters, Norfolk, VA 23507, USA. stephen.miller@sickkids.ca
authors.forename: Stephen F
authors.initials: SF
authors.lastname: Miller
authors.forename: Virginia K
authors.initials: VK
authors.lastname: Proud
authors.forename: Alice L
authors.initials: AL
authors.lastname: Werner
authors.forename: Fiona M
authors.initials: FM
authors.lastname: Field
authors.forename: William F
authors.initials: WF
authors.lastname: Wilcox
authors.forename: Ralph S
authors.initials: RS
authors.lastname: Lachman
authors.forename: David L
authors.initials: DL
authors.lastname: Rimoin
mesh_terms: 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