1.
Case Rep Obstet Gynecol
; 2015: 935204, 2015.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26435866
RESUMO
Multiple anomalies including micromelia, poor mineralization of the vertebrae, and a persistent notochord were identified on second trimester ultrasound in a fetus with a COL2A1 mutation. To our knowledge, this represents the first case of a persistent notochord associated with a COL2A1 mutation in humans. In this case report, we describe ultrasound and postmortem findings and review the pathogenesis associated with a persistent notochord.