Blomstrand lethal osteochondrodysplasia

American Journal of Medical Genetics

Volumn 63, Issue 1, 1996, Pages 84-89

  Leroy, Jules G ^a,d   Keersmaeckers, Guy ^c   Coppens, Mieke ^a   Dumon, Jan E ^b   Roels, Hendrik ^a  

^a GHENT UNIVERSITY   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

advanced skeletal age; Blomstrand type osteochondrodysplasia; lethal neonatal dwarfism; non immune hydrops

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE DENSITY; CASE REPORT; CHONDRODYSPLASIA; CLINICAL FEATURE; DWARFISM; FEMALE; FETUS; HUMAN; HYPOTHESIS; LETHAL GENE; PRIORITY JOURNAL; STILLBIRTH;

ADULT; CONSANGUINITY; FEMALE; FETAL DEATH; GENES, LETHAL; GENES, RECESSIVE; HUMANS; INFANT, NEWBORN; LIVER; MALE; NUCLEAR FAMILY; OSTEOCHONDRODYSPLASIAS; PEDIGREE;

EID: 0029929384     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960503)63:1<84::AID-AJMG17>3.0.CO;2-Q     Document Type: Article

References (4)

1. Blomstrand S, Claësson I, SäveöSderbergh J (1985): A case of lethal congenital dwarfism with accelerated skeletal maturation. Pediatr Radiol 15:141-143.
2. Spranger J, Maroteaux P (1990): The lethal osteochondrodysplasias. Ch. 1 in Harris H, Hirschhorn K (eds): Advances in Human Genetics, Vol 19, p 1-103.
3. Spranger J (1989): Radiologic nosology of bone dysplasias. Am J Med Genet 34:96-104.
4. Young ID, Zuccolo JM, Broderick NJ (1993): A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia? J Med Genet 30:155-157.