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.
MATERIALS AND 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.
CONCLUSION: Pacman dysplasia presents both constant and variable diagnostic radiographic features.