ON LUMPING AND SPLITTING - A FETUS WITH CLINICAL FINDINGS OF THE ORAL-FACIAL-DIGITAL SYNDROME TYPE-VI, THE HYDROLETHALUS SYNDROME, AND THE PALLISTER-HALL SYNDROME
ON LUMPING AND SPLITTING - A FETUS WITH CLINICAL FINDINGS OF THE ORAL-FACIAL-DIGITAL SYNDROME TYPE-VI, THE HYDROLETHALUS SYNDROME, AND THE PALLISTER-HALL SYNDROME
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DOI：
10.1002/ajmg.1320410436
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发表时间：
1991-12-15
期刊：
影响因子：
--
通讯作者：
ZACKAI, EH
中科院分区：
文献类型：
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作者：
MUENKE, M;RUCHELLI, ED;ZACKAI, EH
三种中线畸形复合体，口面指综合征VI型（OFDS VI）或Varadi综合征，水致死综合征（HS）和Pallister-Hall综合征（PHS）已被描述为不同的遗传实体。 在这里，我们报告了一个胎儿，其具有与所附论文中描述的双胞胎胎儿相似的所有3种综合征的临床表现的组合（Hingorani等人，1991年）。 这些胎儿与OFDS VI、HS和PHS的表型重叠提出了一个问题，即它们是否真的像以前假设的那样代表独立的遗传实体。
The three midline malformation complexes, the oral-facial-digital syndrome type VI (OFDS VI) or Varadi syndrome, the hydrolethalus syndrome (HS), and the Pallister-Hall syndrome (PHS) have been described as distinct genetic entities. Here, we report a fetus with a combination of clinical findings of all 3 syndromes similar to the twin fetuses described in the accompanying paper (Hingorani et al., 1991). The phenotypic overlap in these fetuses with the OFDS VI, HS, and PHS raises the question as to whether or not they indeed represent separate genetic entities as previously assumed.