Pierre Robin Syndrome associated with type III familial Duane Retraction Syndrome

Abstract The Pierre Robin Syndrome (PRS) consists of a triad of anomalies characterized by micrognathia, glossoptosis and fissure of the palate, usually associated with other syndromes e occasionally associated with ocular variations. In Duane Retraction Syndrome (DRS), there is a failure in the lateral rectus innervation by the VI cranial nerve, with anomalous innervation of the lateral rectus by fibers of the III nerve. Even though PRS has already been associated with more than 50 other syndromes, there is not any report in literature of association with familial DRS. Thus, this work aims to report a case of this association in a 29 years old patient with recurrence of the syndromes in the family.

摘要 皮埃尔·罗宾综合征（Pierre Robin Syndrome, PRS）以小颌畸形、舌后坠及腭裂三联征为核心特征，常合并其他综合征，偶可伴随眼部异常表现。杜安退缩综合征（Duane Retraction Syndrome, DRS）由第六脑神经（展神经）对外直肌的支配功能障碍引发，外直肌转而接受第三脑神经（动眼神经）纤维的异常支配。尽管已有研究将PRS与50余种其他综合征建立关联，但目前尚无文献报道PRS与家族性杜安退缩综合征的共现关联。为此，本研究旨在报告1例29岁患者同时罹患该两种综合征的临床病例，且该患者家族中存在该综合征的复发现象。