First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia

American Journal of Medical Genetics

Volumn 73, Issue 3, 1997, Pages 345-350

  Den Hollander, Nicolette S ^a   Van Der Harten, Hans J ^b   Vermeij Keers, Christl ^a   Niermeijer, Martinus F ^a   Wladimiroff, Juriy W ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Blomstrand lethal osteochondrodysplasia; First trimester diagnosis; Skeletal dysplasia; Transvaginal ultrasound

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLOMSTRAND LETHAL OSTEOCHONDRODYSPLASIA; BONE DYSPLASIA; CASE REPORT; CHONDRODYSPLASIA; FEMALE; FIRST TRIMESTER PREGNANCY; HUMAN; PRENATAL SCREENING; PRIORITY JOURNAL; TRANSVAGINAL ECHOGRAPHY;

ADULT; CONSANGUINITY; FEMALE; FETAL DEATH; GENES, RECESSIVE; HUMANS; OSTEOCHONDRODYSPLASIAS; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS;

EID: 0030696118     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971219)73:3<345::AID-AJMG22>3.0.CO;2-I     Document Type: Article

References (6)

1. Blomstrand S, Claësson I, Säve-Söderbergh J (1985): A case of lethal congenital dwarfism with accelerated skeletal maturation. Pediatr Radiol 15:141-143.
2. Chitty LS, Altman DG, Henderson A, Campbell S (1993): Appendix 1: Fetal biometry. In Chervenak FA, Isaacson GC, Campbell S (eds): "Ultrasound in Obstetrics and Gynecology." Boston, Toronto, and London: Little, Brown and Company, pp 1777-1785.
3. Leroy JG, Keersmaeckers G, Coppens M, Dumon JE, Roels H (1996): Blomstrand lethal osteochondrodysplasia. Am J Med Genet 63:84-89.
4. Spranger J, Maroteaux P (1990): The lethal osteochondrodysplasias. In Harris H, Hirschhorn K (eds): "Advances in Human Genetics." New York: Plenum Press, pp 69-71.
5. Van der Harten HJ (1993): The skeletal system. In Keeling JW (ed): "Fetal and Neonatal Pathology," 2nd ed. London: Springer-Verlag, pp 619-640.
6. Young ID, Zuccollo JM, Broderick NJ (1993): A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia? J Med Genet 30:155-157.