Pacman dysplasia

Pacman dysplasia is an autosomal recessive, lethal skeletal dysplasia

Additional recommended knowledge

Essential Laboratory Skills Guide

What is the Correct Way to Check Repeatability in Balances?

Weighing the right way

References

• Wilcox WR, Wenger DA, Lachman RS, Rimoin DL (2005). "Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005]". Am J Med Genet A 135 (3): 333. PMID 15887286.
• Saul RA, Proud V, Taylor HA, Leroy JG, Spranger J (2005). "Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia". Am J Med Genet A 135 (3): 328-32. PMID 15887289.
• Wilcox WR, Lucas BC, Loebel B, Bachman RP, Lachman RS, Rimoin DL (1998). "Pacman dysplasia: report of two affected sibs". Am J Med Genet 77 (4): 272-6. PMID 9600734.
• Shohat M, Rimoin DL, Gruber HE, Lachman R (1993). "New epiphyseal stippling syndrome with osteoclastic hyperplasia". Am J Med Genet 45 (5): 558-61. PMID 8456823.
• Miller SF, Proud VK, Werner AL, Field FM, Wilcox WF, Lachman RS, Rimoin DL (2003). "Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features". Pediatr Radiol 33 (4): 256-60. PMID 12709756.