Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005]

Am J Med Genet A. 2005 Jun 15;135(3):333. doi: 10.1002/ajmg.a.30717.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.
  • Comment

MeSH terms

  • Diagnosis, Differential
  • Female
  • Humans
  • Infant
  • Lysosomes / enzymology
  • Metacarpus / abnormalities
  • Metacarpus / diagnostic imaging
  • Mucolipidoses / diagnosis*
  • Osteochondrodysplasias / diagnosis*
  • Pregnancy
  • Prenatal Diagnosis
  • Radiography
  • Spine / abnormalities
  • Spine / diagnostic imaging