Horng M J, Tsai F J, Tsai C H
Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1992 Jul-Aug;33(4):300-6.
Two cases of hypoglossia-hypodactylia syndrome are reported. This syndrome is characterized by reduction in the size of tongue, micrognathia and variable limb anomalies. In these present cases, both karyotypes revealed normal. The unrelated parents and siblings are normal. Drug exposure to the mother during pregnancy was negative. Since this syndrome is rare and no previous report in Taiwan. So we report these two cases and review the literature.
报告了两例舌下-指骨发育不全综合征病例。该综合征的特征为舌体缩小、小颌畸形以及多种肢体异常。在这两例病例中，两者的核型均显示正常。无关的父母及兄弟姐妹均正常。母亲孕期无药物接触史。由于该综合征较为罕见且台湾此前尚无相关报道。因此我们报告这两例病例并复习相关文献。
