Pacman dysplasia

A lethal skeletal dysplasia with variable radiographic features

Stephen Miller, Virginia K. Proud, Alice L. Werner, Fiona M. Field, William F. Wilcox, Ralph S. Lachman, David L. Rimoin

Research output: Contribution to journalArticle

7 Citations (Scopus)

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. 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.

Original languageEnglish (US)
Pages (from-to)256-260
Number of pages5
JournalPediatric radiology
Volume33
Issue number4
DOIs
StatePublished - Apr 1 2003

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Genetic Counseling
Pacman dysplasia

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Radiology Nuclear Medicine and imaging

Cite this

Miller, S., Proud, V. K., Werner, A. L., Field, F. M., Wilcox, W. F., Lachman, R. S., & Rimoin, D. L. (2003). Pacman dysplasia: A lethal skeletal dysplasia with variable radiographic features. Pediatric radiology, 33(4), 256-260. https://doi.org/10.1007/s00247-002-0859-4

Pacman dysplasia : A lethal skeletal dysplasia with variable radiographic features. / Miller, Stephen; Proud, Virginia K.; Werner, Alice L.; Field, Fiona M.; Wilcox, William F.; Lachman, Ralph S.; Rimoin, David L.

In: Pediatric radiology, Vol. 33, No. 4, 01.04.2003, p. 256-260.

Research output: Contribution to journalArticle

Miller, S, Proud, VK, Werner, AL, Field, FM, Wilcox, WF, Lachman, RS & Rimoin, DL 2003, 'Pacman dysplasia: A lethal skeletal dysplasia with variable radiographic features', Pediatric radiology, vol. 33, no. 4, pp. 256-260. https://doi.org/10.1007/s00247-002-0859-4
Miller, Stephen ; Proud, Virginia K. ; Werner, Alice L. ; Field, Fiona M. ; Wilcox, William F. ; Lachman, Ralph S. ; Rimoin, David L. / Pacman dysplasia : A lethal skeletal dysplasia with variable radiographic features. In: Pediatric radiology. 2003 ; Vol. 33, No. 4. pp. 256-260.
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