PHENOTYPE AND ETIOLOGY OF PALLISTER/HALL SYNDROME

这项研究涵盖了一系列表型，包括Pallister-Hall综合征、等位基因疾病Greig头多指并指综合征(GCPS)、McKusick-Kaufman综合征(MKS)和Bardet-Biedl综合征(BBS)。这些疾病的临床表现包括多指畸形、中枢神经系统畸形(伴有或不伴有智力低下和癫痫)、颅面畸形和内脏畸形，如肾脏畸形或先天性心脏缺陷。我们通过翻译的方法研究这些疾病，从临床开始，通过体检、包括X线片、超声波、MRI和CT扫描的成像研究对表型进行仔细的临床评估。我们最近确定，BBS和MKS都可以由同一基因的突变引起。此外，我们还发现，在GCPS中，缺失较大的患者更有可能出现发育迟缓或言语迟缓。这些数据将被用来开发可以在临床或分子水平上进行研究的其他假说。

This research study encompasses a range of phenotypes that include Pallister-Hall syndrome, the allelic disorder Greig cephalopolysyndactyly syndrome (GCPS), McKusick-Kaufman syndrome (MKS), and Bardet-Biedl syndrome (BBS). The clinical manifestations of these disorders include polydactyly, central nervous system malformations (with or without mental retardation and seizures), craniofacial malformations, and visceral malformations such as renal malformations or congenital heart defects. We study these disorders by a translational approach that begins in the clinic with careful clinical evaluation of the phenotypes by physical examination, imaging studies that include radiographs, ultrasound, MRI and CT scanning. We have recently determined that BBS and MKS can both be caused by mutations in the same gene. In addition, we have shown that in GCPS, patients with large deletions are more likely to have developmental delay or delayed speech. These data will be used to develop additional hypotheses that can be investigated at the clinical or molecular level.