Pacman dysplasia explained

Pacman dysplasia
Synonyms:	Epiphyseal stippling with osteoclastic hyperplasia

Pacman dysplasia is a lethal autosomal recessive skeletal dysplasia. The dysplasia is present during fetal development.^[1]

Further reading

• Wilcox WR, Wenger DA, Lachman RS, Rimoin DL . Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005] . Am J Med Genet A . 2005 . 333 . 135 . 3 . 15887286 . 10.1002/ajmg.a.30717. 38848656 .
• Saul RA, Proud V, Taylor HA, Leroy JG, Spranger J . Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia . Am J Med Genet A . 2005 . 328–32 . 135 . 3 . 15887289 . 10.1002/ajmg.a.30716. 2151584 . free .
• Wilcox WR, Lucas BC, Loebel B, Bachman RP, Lachman RS, Rimoin DL . Pacman dysplasia: report of two affected sibs . Am J Med Genet . 1998 . 272–6 . 77 . 4 . 9600734 . 10.1002/(SICI)1096-8628(19980526)77:4<272::AID-AJMG4>3.0.CO;2-P.
• Shohat M, Rimoin DL, Gruber HE, Lachman R . New epiphyseal stippling syndrome with osteoclastic hyperplasia . Am J Med Genet . 1993 . 558–61 . 45 . 5 . 8456823 . 10.1002/ajmg.1320450506.
• Miller SF, Proud VK, Werner AL, Field FM, Wilcox WF, Lachman RS, Rimoin DL . Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features . Pediatr Radiol . 2003 . 256–60 . 33 . 4 . 12709756 . 10.1007/s00247-002-0859-4. 185059 .

Notes and References

1. Web site: OMIM Entry - 167220 - PACMAN DYSPLASIA.