Biri A, Korucuoğlu U, Turp A, Karaoğuz M, Himmetoğlu O, Balci S
Department of Obstetrics and Gynecology, Gazi University Faculty of Medicine, Ankara, Turkey.
Genet Couns. 2006;17(2):161-5.
Thoracoschisis is a very rare congenital anomaly and is usually associated with limb and abdominal wall defects forming part of limb-body wall complex. We here present a case of a 29-week-4-day pregnancy ended with intrauterine demise. Postmortem examination revealed hiatal hernia, thoracoschisis and protrusion of some part of liver from this defect, left forearm agenesis and right arm and right hand agenesis. The findings accompanying thoracoschisis in this presented case exclude any previously reported related syndrome and we believe that this is a new syndrome.
胸裂是一种非常罕见的先天性异常，通常与肢体和腹壁缺陷相关，是肢体-体壁复合体的一部分。我们在此报告一例妊娠29周4天以宫内死亡告终的病例。尸检发现食管裂孔疝、胸裂以及肝脏一部分从该缺损处突出，左前臂发育不全，右臂和右手发育不全。该病例中伴随胸裂出现的这些发现排除了任何先前报道的相关综合征，我们认为这是一种新的综合征。
