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Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype.
Am J Med Genet. 1998 Jan 23; 75(3):326-9.AJ

Abstract

Fibrochondrogenesis is a very rare form of lethal short-limb dwarfism, with 8 cases described since it was first reported in 1978. It is becoming clear that this condition has certain radiological and histological characteristics that distinguish it from other skeletal dysplasias. We herein present a further case of fibrochondrogenesis diagnosed in a fetus of 17 weeks, which is the youngest patient reported so far. In addition, the fetus showed severe micrognathia and a bifid tongue. These are not previously described manifestations, which extend the phenotype of this rare condition.

Authors+Show Affiliations

Fetal Malformation Unit, Institute for Medical Genetics, University Hospital of Wales, Cardiff, United Kingdom.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9475607

Citation

Hunt, N C., and G M. Vujanić. "Fibrochondrogenesis in a 17-week Fetus: a Case Expanding the Phenotype." American Journal of Medical Genetics, vol. 75, no. 3, 1998, pp. 326-9.
Hunt NC, Vujanić GM. Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype. Am J Med Genet. 1998;75(3):326-9.
Hunt, N. C., & Vujanić, G. M. (1998). Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype. American Journal of Medical Genetics, 75(3), 326-9.
Hunt NC, Vujanić GM. Fibrochondrogenesis in a 17-week Fetus: a Case Expanding the Phenotype. Am J Med Genet. 1998 Jan 23;75(3):326-9. PubMed PMID: 9475607.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype. AU - Hunt,N C, AU - Vujanić,G M, PY - 1998/2/25/pubmed PY - 2000/6/20/medline PY - 1998/2/25/entrez SP - 326 EP - 9 JF - American journal of medical genetics JO - Am J Med Genet VL - 75 IS - 3 N2 - Fibrochondrogenesis is a very rare form of lethal short-limb dwarfism, with 8 cases described since it was first reported in 1978. It is becoming clear that this condition has certain radiological and histological characteristics that distinguish it from other skeletal dysplasias. We herein present a further case of fibrochondrogenesis diagnosed in a fetus of 17 weeks, which is the youngest patient reported so far. In addition, the fetus showed severe micrognathia and a bifid tongue. These are not previously described manifestations, which extend the phenotype of this rare condition. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/9475607/Fibrochondrogenesis_in_a_17_week_fetus:_a_case_expanding_the_phenotype_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1998&volume=75&issue=3&spage=326 DB - PRIME DP - Unbound Medicine ER -