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

American Journal of Medical Genetics

Volumn 135 A, Issue 3, 2005, Pages 333-

  Wilcox, William R ^a,b   Lachman, Ralph S ^a,b   Rimoin, David L ^a,b   Wenger, Davia A ^c  

^a CEDARS SINAI MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BONE DYSPLASIA; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; HUMAN; LYSOSOME STORAGE DISEASE; MUCOLIPIDOSIS TYPE 2; NOTE; PACMAN DYSPLASIA; PRIORITY JOURNAL; RADIODIAGNOSIS; SYNDROME DELINEATION;

DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT; LYSOSOMES; METACARPUS; MUCOLIPIDOSES; OSTEOCHONDRODYSPLASIAS; PREGNANCY; PRENATAL DIAGNOSIS; SPINE;

EID: 19944407143     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30717     Document Type: Note

References (5)

1. Miller SF, Proud VK, Werner AL, Field FM, Wilcox WR, Lachman RS, Rimoin DL. 2003. Pacman dysplasia: A lethal skeletal dysplasia with variable radiographic features. Pediatr Radiol 33:256-260.
2. 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 (in press).
3. Shohat M, Rimoin DL, Gruber HE, Lachman R. 1993. New epiphyseal stippling syndrome with osteoclastic hyperplasia. Am J Med Genet 45:558-561.
4. Unger S, Paul DA, Nino MC, McKay CP, Miller S, Sochett E, Braverman N, Clarke JTR, Cole DEC, Supert-Furga A. 2005. Mucolipidosis II presenting as severe neonatal hyperparathyroidism. Eur J Pediatr 164:236-243.
5. Wilcox WR, Lucas BC, Loebel B, Bachman RP, Lachman RS, Rimoin DL. 1998. Pacman dysplasia: Report of two affected sibs. Am J Med Genet 77:272-276.