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...

Descripción completa

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
Descripción
Sumario: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.

Ejemplares similares