【转帖】thefetus病例72：翼状胬肉综合征

原文和译文一同给出，便于各位战友对比，不当之处请多多指教！
This second trimester fetus demonstrates a very thick nuchal edema with cystic hygroma:
Thus the findings are:
·  thick nuchal edema with cystic hygroma
·  pleural effusions
·  poorly coiled, (decrease fetal motion ?)
·  webbing of the joints
With so many findings it is convenient to search OMIM (in the Search tab on the main menu). However putting too many criteria in OMIM may return no results. For those who had not joined TheFetus.net last time i mentioned that little trick a simple first pass search is to count how many entities are listed fro each criteria . For instance in this case there are:
# of entries   keyword
14  cystic hygroma
12  pleural effusion
10  webbing of the joints
So "webbing of the joints" is the most discriminant keyword. Combining "Cystic hygroma" and "webbing of the joints" actually does not yield the correct diagnosis. Among the choices offered by both "Cystic hygroma" and "webbing of the joints" is Pterygium syndrome which is what that baby did indeed have.
这个妊娠中期的胎儿显示水囊状淋巴管瘤伴很厚的颈部水肿。
这样（超声）所见为：
水囊状淋巴管瘤伴颈部水肿
胸腔积液
蜷缩（胎动减少）
关节蹼化畸形
有如此多的发现，再OMIM上检索就很方便了（主菜单上的搜索标签）。然而，再OMIM上用太多的条件检索，可能会没有结果。对于那些还没有加入TheFetus.net网的人，上一次我曾提到一个小把戏，那就是数一数每个条件的检索结果有多少个。如本例：
# of entries（结果）   Keyword（关键词）
14  cystic hygroma
12  pleural effusion
10  webbing of the joints
因此，关节蹼化畸形是最具判别的关键词。结合水囊状淋巴管瘤和关节蹼化畸形实际上仍不能检索出正确的诊断。在水囊状淋巴管瘤和关节蹼化畸形的检索结果中，两者共同的结果翼状胬肉综合征是本例婴儿的实际诊断。
影像按原文顺序编辑。