Van Allen M I, Siegel-Bartelt J, Dixon J, Zuker R M, Clarke H M, Toi A
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Am J Med Genet. 1992 Nov 15;44(5):598-604. doi: 10.1002/ajmg.1320440513.
Most structural anomalies attributed to vascular disruption have been inferred, though not proven, to be the result of disruptive events in utero. We report on 2 pregnancies with ultrasound evidence of disruptive events resulting in terminal limb "reduction" defects with constriction bands and other anomalies. In the first patient a fetal ultrasound study at 12 weeks post-LMP demonstrated a monochorionic (MC) twin pregnancy with a nonviable co-twin and no evidence of amniotic bands. At birth, there was a left cleft lip and palate, and terminal limb "reduction" defects with ring constrictions of the left hand and both feet. In the second patient, a routine fetal ultrasound study at 18 weeks post-LMP identified a subhepatic cyst which subsequently resolved. Fetal ultrasound examination and neonatal computed tomography (CT) scan of the liver were consistent with a hepatic infarct due to emboli from the umbilical vein. At birth, patient 2 had acrosyndactyly of the left hand with ring constrictions of the digits and reduction of the left big toe. There was no evidence of abnormal amnion. Postnatal development has been normal in both cases. We present ultrasound evidence supporting the hypothesis that vascular disruption from death of a co-twin or from in utero embolic infarcts can cause: 1) terminal limb "reduction" defects and possibly cleft lip and palate; and 2) ring constrictions similar to those of "amniotic band disruption sequence" in the absence of an abnormal amnion. Serial pregnancy ultrasound studies are recommended for evaluation of the development of fetal structural anomalies following ultrasound evidence of a disruptive event in utero.
大多数归因于血管破坏的结构异常虽未得到证实,但据推测是子宫内破坏性事件的结果。我们报告了2例妊娠,超声证据显示存在破坏性事件,导致肢体末端出现“截断”缺陷,并伴有束带及其他异常。第一例患者,末次月经后12周的胎儿超声检查显示为单绒毛膜双胎妊娠,其中一个双胎已无生命迹象,且无羊膜带证据。出生时,患儿有左侧唇腭裂,以及左手和双足的肢体末端“截断”缺陷并伴有环形束带。第二例患者,末次月经后18周的常规胎儿超声检查发现一个肝下囊肿,该囊肿随后消失。胎儿超声检查及新生儿肝脏计算机断层扫描(CT)与脐静脉栓塞导致的肝梗死相符。出生时,患者2左手并指畸形,手指有环形束带,左拇趾短小。无羊膜异常证据。两例患儿出生后的发育均正常。我们提供了超声证据,支持以下假说:双胎之一死亡或子宫内栓塞性梗死导致的血管破坏可引起:1)肢体末端“截断”缺陷,可能还包括唇腭裂;2)在无羊膜异常的情况下出现类似于“羊膜带破坏序列”的环形束带。建议在超声发现子宫内有破坏性事件证据后,通过连续的妊娠超声检查来评估胎儿结构异常的发展情况。