变异的bohling -opitz综合征:罕见病例报告

R. Choudhary, Romesh Gauttam, Vishnu Pansari, Anand Kumawat
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摘要

bohling - Opitz综合征也被称为Opitz C综合征或oberklad - danks综合征是一种罕见的综合征。我们报告一个2个月大的男婴,患有bohling - opitz样综合征,具有所有经典特征和膈肌外翻(左侧),但尚未有该综合征的报道。据我们所知,迄今为止医学文献中共报告了23例这种综合征,这可能是印度的第一例病例报告。虽然有重叠,但与bohling - opitz综合征和其他综合征的临床区别似乎是可能的,因此可以假设一个特定的因果实体。
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Variant of bohring-opitz syndrome: A rare case report
Bohring–Opitz syndrome also known as Opitz C syndrome or Oberklaid–Danks syndrome is a rare syndrome. We are reporting a 2 months old male child with Bohring-Opitz like syndrome with all classical features and eventration of diaphragm   (left side) which has not  been reported yet with this syndrome.  To our knowledge, a total of 23 cases with this syndrome have been reported in the medical literature to date and this is probably the first case report from India. Although there is overlap, a clinical distinction from the Bohring-Opitz syndrome and other syndromes seems possible, and thus a specific causal entity may be postulated.
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