Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report.

Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis) detected by prenatal ultrasonography at 20-week gestation. A dwarfed fetus with large head, short neck and chest, promin...

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Detalles Bibliográficos
Autores principales: Lee, H. S., Doh, J. W., Kim, C. J., Chi, J. G.
Formato: Texto
Lenguaje:English
Publicado: Korean Academy of Medical Sciences 2000
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3054684/
https://www.ncbi.nlm.nih.gov/pubmed/11069003
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author Lee, H. S.
Doh, J. W.
Kim, C. J.
Chi, J. G.
author_facet Lee, H. S.
Doh, J. W.
Kim, C. J.
Chi, J. G.
author_sort Lee, H. S.
collection PubMed
description Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis) detected by prenatal ultrasonography at 20-week gestation. A dwarfed fetus with large head, short neck and chest, prominent abdomen and short limbs was terminated transvaginally. Radiologic and histopathologic examination revealed features of mild form of achondrogenesis type II. Although the case had no known risk factor and the phenotypic abnormality was mild, modern development in prenatal screening made the early detection possible.
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spelling pubmed-30546842011-03-15 Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report. Lee, H. S. Doh, J. W. Kim, C. J. Chi, J. G. J Korean Med Sci Research Article Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis) detected by prenatal ultrasonography at 20-week gestation. A dwarfed fetus with large head, short neck and chest, prominent abdomen and short limbs was terminated transvaginally. Radiologic and histopathologic examination revealed features of mild form of achondrogenesis type II. Although the case had no known risk factor and the phenotypic abnormality was mild, modern development in prenatal screening made the early detection possible. Korean Academy of Medical Sciences 2000-10 /pmc/articles/PMC3054684/ /pubmed/11069003 Text en
spellingShingle Research Article
Lee, H. S.
Doh, J. W.
Kim, C. J.
Chi, J. G.
Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report.
title Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report.
title_full Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report.
title_fullStr Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report.
title_full_unstemmed Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report.
title_short Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report.
title_sort achondrogenesis type ii (langer-saldino achondrogenesis): a case report.
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3054684/
https://www.ncbi.nlm.nih.gov/pubmed/11069003
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