König Rainer, Beeg Thomas, Tariverdian Gholamali, Scheffer Hans, Bitter Klaus
Department of Human Genetics, Johann Wolfgang Goethe University, Frankfurt, Germany.
Clin Dysmorphol. 2003 Oct;12(4):221-5. doi: 10.1097/00019605-200310000-00002.
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.
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。
