Search tips
Search criteria 


Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
J Med Genet. 1996 November; 33(11): 957–961.
PMCID: PMC1050792

Achondrogenesis type 1B.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1.1M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Images in this article

Click on the image to see a larger version.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Wiedemann HR, Remagen W, Hienz HA, Gorlin RJ, Maroteaux P. Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias. Z Kinderheilkd. 1974;116(4):223–251. [PubMed]
  • Schulte MJ, Lenz W, Vogel M. Letale Achondrogenesis: Eine Ubersicht über 56 Fälle. Klin Padiatr. 1978 Jul;190(4):327–340. [PubMed]
  • Yang SS, Brough AJ, Garewal GS, Bernstein J. Two types of heritable lethal achondrogenesis. J Pediatr. 1974 Dec;85(6):796–801. [PubMed]
  • Yang SS, Heidelberger KP, Bernstein J. Intracytoplasmic inclusion bodies in the chondrocytes of type I lethal achondrogenesis. Hum Pathol. 1976 Nov;7(6):667–673. [PubMed]
  • Whitley CB, Gorlin RJ. Achondrogenesis: new nosology with evidence of genetic heterogeneity. Radiology. 1983 Sep;148(3):693–698. [PubMed]
  • Eyre DR, Upton MP, Shapiro FD, Wilkinson RH, Vawter GF. Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis. Am J Hum Genet. 1986 Jul;39(1):52–67. [PubMed]
  • Godfrey M, Hollister DW. Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen. Am J Hum Genet. 1988 Dec;43(6):904–913. [PubMed]
  • Vissing H, D'Alessio M, Lee B, Ramirez F, Godfrey M, Hollister DW. Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism. J Biol Chem. 1989 Nov 5;264(31):18265–18267. [PubMed]
  • Spranger J, Winterpacht A, Zabel B. The type II collagenopathies: a spectrum of chondrodysplasias. Eur J Pediatr. 1994 Feb;153(2):56–65. [PubMed]
  • Borochowitz Z, Lachman R, Adomian GE, Spear G, Jones K, Rimoin DL. Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups. J Pediatr. 1988 Jan;112(1):23–31. [PubMed]
  • van der Harten HJ, Brons JT, Dijkstra PF, Niermeyer MF, Meijer CJ, van Giejn HP, Arts NF. Achondrogenesis-hypochondrogenesis: the spectrum of chondrogenesis imperfecta. A radiological, ultrasonographic, and histopathologic study of 23 cases. Pediatr Pathol. 1988;8(6):571–597. [PubMed]
  • Urso FP, Urso MJ. Achondrogenesis in two sibs. Birth Defects Orig Artic Ser. 1974;10(12):10–17. [PubMed]
  • Nardi F, Gerlini G, Bonucci E. Achondrogenesis: report on a case, with particular reference to ultrastructure and histochemistry. Virchows Arch A Pathol Anat Histol. 1974;363(4):311–322. [PubMed]
  • Molz G, Spycher MA. Achondrogenesis type I: light and electron-microscopic studies. Eur J Pediatr. 1980 Jun;134(1):69–74. [PubMed]
  • Superti-Furga A. A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. Am J Hum Genet. 1994 Dec;55(6):1137–1145. [PubMed]
  • Superti-Furga A, Hästbacka J, Wilcox WR, Cohn DH, van der Harten HJ, Rossi A, Blau N, Rimoin DL, Steinmann B, Lander ES, et al. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet. 1996 Jan;12(1):100–102. [PubMed]
  • Freisinger P, Stanescu V, Jacob B, Cohen-Solal L, Maroteaux P, Bonaventure J. Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose. Am J Med Genet. 1994 Feb 15;49(4):439–446. [PubMed]
  • Rossi A, Bonaventure J, Delezoide AL, Cetta G, Superti-Furga A. Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter. J Biol Chem. 1996 Aug 2;271(31):18456–18464. [PubMed]
  • Hästbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, Hamilton BA, Kusumi K, Trivedi B, Weaver A, et al. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell. 1994 Sep 23;78(6):1073–1087. [PubMed]
  • LAMY M, MAROTEAUX P. [Diastrophic nanism]. Presse Med. 1960 Nov 23;68:1977–1980. [PubMed]
  • Hästbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES. Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet. 1996 Feb;58(2):255–262. [PubMed]
  • Superti-Furga A, Rossi A, Steinmann B, Gitzelmann R. A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations. Am J Med Genet. 1996 May 3;63(1):144–147. [PubMed]
  • Spranger J, Maroteaux P. The lethal osteochondrodysplasias. Adv Hum Genet. 1990;19:1–332. [PubMed]
  • Sharony R, Browne C, Lachman RS, Rimoin DL. Prenatal diagnosis of the skeletal dysplasias. Am J Obstet Gynecol. 1993 Sep;169(3):668–675. [PubMed]
  • Soothill PW, Vuthiwong C, Rees H. Achondrogenesis type 2 diagnosed by transvaginal ultrasound at 12 weeks' gestation. Prenat Diagn. 1993 Jun;13(6):523–528. [PubMed]
  • Meizner I, Barnhard Y. Achondrogenesis type I diagnosed by transvaginal ultrasonography at 13 weeks' gestation. Am J Obstet Gynecol. 1995 Nov;173(5):1620–1622. [PubMed]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group