Medicine:Pacman dysplasia

Classification	D ICD-10: Q77.8; OMIM: 167220;
External resources	Orphanet: 1952;

Pacman dysplasia
Other names	Epiphyseal stippling with osteoclastic hyperplasia
	Pacman dysplasia is inherited in an autosomal recessive manner

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

References

"Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005]". Am J Med Genet A 135 (3): 333. 2005. doi:10.1002/ajmg.a.30717. PMID 15887286.
"Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia". Am J Med Genet A 135 (3): 328–32. 2005. doi:10.1002/ajmg.a.30716. PMID 15887289.
"Pacman dysplasia: report of two affected sibs". Am J Med Genet 77 (4): 272–6. 1998. doi:10.1002/(SICI)1096-8628(19980526)77:4<272::AID-AJMG4>3.0.CO;2-P. PMID 9600734.
"New epiphyseal stippling syndrome with osteoclastic hyperplasia". Am J Med Genet 45 (5): 558–61. 1993. doi:10.1002/ajmg.1320450506. PMID 8456823.
"Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features". Pediatr Radiol 33 (4): 256–60. 2003. doi:10.1007/s00247-002-0859-4. PMID 12709756.

0.00

(0 votes)

Original source: https://en.wikipedia.org/wiki/Pacman dysplasia. Read more

Pacman dysplasia
Other names	Epiphyseal stippling with osteoclastic hyperplasia

Pacman dysplasia is inherited in an autosomal recessive manner

Classification	D ICD-10: Q77.8 OMIM: 167220
External resources	Orphanet: 1952