Medical Genetics Branch of the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3717, USA.
Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):158-69. doi: 10.1002/ajmg.c.30235.
Holoprosencephaly (HPE), the most common developmental disorder of the human forebrain, is occasionally associated with the spectrum of agnathia, or virtual absence of the mandible. This condition results in a constellation of structural cerebral and craniofacial abnormalities. Here we present two new patients and review 30 patients from the literature with HPE and variants of agnathia. The majority of these patients are female and have the most severe forms of HPE, with cyclopia present more frequently than is usually observed in cohorts of patients with HPE. Also, many patients have additional clinical findings not typical in patients with classic HPE, particularly situs abnormalities. Recent animal studies suggest that the association of HPE and agnathia may relate to alterations in signaling from forebrain and foregut endoderm organizing centers and subsequent first pharyngeal arch development, although present models are inadequate to explain all of the clinical findings of this enigmatic human syndrome. Further research is required to better elucidate the causal and pathogenic basis of this association.
前脑全同（HPE）是人类前脑最常见的发育障碍，偶尔与颌裂的范围相关联，或下颌骨的虚拟缺失。这种情况导致一系列结构性大脑和颅面异常。在这里，我们介绍了两个新的患者，并回顾了文献中的 30 名 HPE 和颌裂变异患者。这些患者大多数是女性，具有最严重的 HPE 形式，与通常在 HPE 患者队列中观察到的比目鱼更为常见。此外，许多患者还有其他不典型的临床发现，特别是 situs 异常。最近的动物研究表明，HPE 和颌裂的关联可能与来自前脑和前肠内胚层组织中心的信号改变以及随后的第一咽弓发育有关，尽管目前的模型不足以解释这个神秘的人类综合征的所有临床发现。需要进一步的研究来更好地阐明这种关联的因果和发病基础。
