Cargando…
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...
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: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3054684/ https://www.ncbi.nlm.nih.gov/pubmed/11069003 |
Ejemplares similares
-
Prenatal diagnosis of achondrogenesis type I: a case report
por: Taner, M Zeki, et al.
Publicado: (2008) -
The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects
por: Bird, Ian M., et al.
Publicado: (2018) -
Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis
por: Vanegas, Sara, et al.
Publicado: (2018) -
Novel missense COL2A1 variant in a fetus with achondrogenesis type II
por: Kobayashi, Yukari, et al.
Publicado: (2022) -
Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases
por: Wang, Wenbo, et al.
Publicado: (2019)