Pacman dysplasia: A lethal skeletal dysplasia with variable radiographic features

Pediatric Radiology

Volumn 33, Issue 4, 2003, Pages 256-260

  Miller, Stephen F ^a   Proud, Virginia K ^a   Werner, Alice L ^a   Field, Fiona M ^b   Wilcox, William F ^b   Lachman, Ralph S ^b   Rimoin, David L ^b  

^a CHILDREN S HOSPITAL OF THE KING S DAUGHTERS   (United States)

^b CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

Chondrodysplasia punctata; Lethal dysplasia; Stippled epiphyses

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE DYSPLASIA; CASE REPORT; CLINICAL FEATURE; COMPARATIVE STUDY; DIAGNOSTIC ACCURACY; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; FETUS; GENETIC COUNSELING; HISTOPATHOLOGY; HUMAN; LETHALITY; MALE; PACMAN DYSPLASIA; PRIORITY JOURNAL; RADIODIAGNOSIS;

EID: 0037506869     PISSN: 03010449     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00247-002-0859-4     Document Type: Article

References (4)

1. Shohat M, Rimoin DL, Gruber HE, et al (1993) New epiphyseal stippling syndrome with osteoclastic hyperplasia. Am J Med Gen 45:558-561
2. Taybi H, Lachman R (1996) Radiology of syndromes, metabolic disorders, and skeletal dysplasias, 4th edn. Mosby Year-Book Medical Publishers, St Louis
3. Wilcox WR, Lucas BC, Loebel B, et al (1998) Pacman dysplasia: report of two affected sibs. Am J Med Genet 77:72-276
4. Patel MS, Callahan JS, Zhang S, etal (1999) Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up. Am J Med Genet 85:38-47