AI Article Synopsis
- Lethal multiple pterygium syndrome is a rare genetic disorder, typically diagnosed based on specific prenatal ultrasound findings.
- Previous studies indicated that diagnosis usually occurs in the later stages of pregnancy, but this report shows that it can be identified as early as the first trimester.
- The case presented highlights unique sonographic and postmortem features of a fetus affected by the syndrome at 13 weeks of gestation.
Article Abstract
Lethal multiple pterygium syndrome is a rare inherited disorder. Previous reports suggest that the diagnosis may be based on prenatal sonographic demonstration of severe limb flexion, absence of fetal motion, and a large cystic hygroma in the second and third trimesters. We present the sonographic features and postmortem features of a fetus with lethal multiple pterygium syndrome at 13 weeks of gestation, which shows that the condition can possibly be diagnosed in the first trimester of pregnancy.
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| http://dx.doi.org/10.1002/pd.1166 | DOI Listing |
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