Chondrodysplasia punctata, humero-metacarpal type: A second case

American Journal of Medical Genetics

Volumn 64, Issue 3, 1996, Pages 493-496

  Fryburg, Julie S ^a   Kelly, Thaddeus E ^a  

^a UNIVERSITY OF VIRGINIA HEALTH SYSTEM   (United States)

Author keywords

chondrodysplasia punctata; punctate epiphyseal calcifications; rhizomelic shortening; short humeri; short metacarpals; skeletal dysplasia

Indexed keywords

ARTICLE; CASE REPORT; CHONDRODYSPLASIA PUNCTATA; HUMAN; HUMERUS; LIMB MALFORMATION; MALE; METACARPAL BONE; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADOLESCENT; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC; FEMALE; GROWTH; HUMANS; HUMERUS; INFANT, NEWBORN; MALE; RADIOGRAPHY;

EID: 0029790990     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960823)64:3<493::AID-AJMG9>3.0.CO;2-Q     Document Type: Article

References (6)

1. Borochowitz Z (1991): Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: Humero-metacarpal (HM) type: Variation or heterogeneity? Am J Med Genet 41:417-122.
2. Burck U (1982): Mesomelic dysplasia with punctate epiphyseal calcifications - a new entity of chondrodysplasia punctata? Eur J Pedia 138:67-72.
3. Gilbert EF, Opitz JM, Spranger JW, Langer LO, Wolfson JJ, Viseskul C (1976): Chondrodysplasia punctata-rhizomelic form: Pathologic and radiologic studies of three infants. Eur J Pedia 123:89-109.
4. Poznanski AK (1994): Punctate epiphyses: A radiological sign not a disease. Pediatr Radiol: 418-424.
5. Rittler M, Menger H, Spranger J (1990): Chondrodysplasia punctata, tibia-metacarpal (MT) type. Am J Med Genet 37:200-208.
6. Spranger JW, Opitz JM, Bidder U (1971): Heterogeneity of chondrodysplasia punctata. Hum Genet 11:190-212.