Chondrodysplasia punctata with multiple congenital anomalies: A new syndrome?

Pediatric Radiology

Volumn 28, Issue 10, 1998, Pages 790-793

  Mortier, Geert R ^a   Messiaen, Ludwine M ^a   Espeel, Marc ^b   Smets, Koen J ^a   Vanzieleghem, Bart D ^a   Roels, Frank ^b   De Paepe, Anne M ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b GHENT UNIVERSITY   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHONDRODYSPLASIA PUNCTATA; CONFERENCE PAPER; CRANIOFACIAL MALFORMATION; EPIPHYSIS; HUMAN; MALE; NEWBORN; PRIORITY JOURNAL; RADIODIAGNOSIS; THORACIC SPINE;

ABNORMALITIES, MULTIPLE; CHONDRODYSPLASIA PUNCTATA; EPIPHYSES; FACE; HUMANS; INFANT, NEWBORN; MALE; SYNDROME;

EID: 0031726594     PISSN: 03010449     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002470050466     Document Type: Conference Paper

References (5)

1. Poznanski AK (1994) Punctate epiphyses: a radiological sign not a disease. Pediatr Radiol 24: 418-424
2. Rimoin DL, Lachman RS (1993) Genetic disorders of the osseous skeleton. In: Beighton P (ed) McKusick's heritable disorders of connective tissue, 5 th edn. Mosby, St. Louis, pp 557-689
3. Tayhi H, Lachman RS (1996) Radiology of syndromes, metabolic disorders, and skeletal dysplasias. Moshy-Year Book Publications, St. Louis
4. Maroteaux P (1995) Les maladies osseuses de l'enfant. Flammarion Médecine-Sciences, Paris
5. Franco B, Meroni G, Parenti G, et al. (1995) A cluster of sulfatase genes on Xp 22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell 81: 1-20