前脑无裂畸形、双侧唇腭裂和缺指/趾畸形：另一病例及随访
Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up.
作者信息
König Rainer, Beeg Thomas, Tariverdian Gholamali, Scheffer Hans, Bitter Klaus
机构信息
Department of Human Genetics, Johann Wolfgang Goethe University, Frankfurt, Germany.
出版信息
Clin Dysmorphol. 2003 Oct;12(4):221-5. doi: 10.1097/00019605-200310000-00002.
Abstract
We describe a male patient with lobar holoprosencephaly, ectrodactyly, and cleft lip/palate, a syndrome which has been seen previously in only six patients. In addition, our patient developed hypernatraemia, which has been described in three patients before.
摘要
我们描述了一名患有叶状全前脑畸形、缺指（趾）畸形和唇腭裂的男性患者，该综合征此前仅在另外6名患者中见过。此外，我们的患者还出现了高钠血症，此前有3名患者曾有过相关描述。
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