Tan Tiong Yang, Farlie Peter G
Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia.
Wiley Interdiscip Rev Dev Biol. 2013 May-Jun;2(3):369-77. doi: 10.1002/wdev.69. Epub 2012 May 14.
Pierre Robin sequence (PRS) is an association of clinical features consisting of mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to obstructive apnea and feeding difficulties. PRS can occur as an isolated condition or can be found in association with a range of other features in a number of conditions including Treacher collins and Stickler syndromes. The frequent association of the PRS triad suggests a common underlying developmental mechanism which impacts on each of these tissues. Isolated PRS is typically sporadic but when familial usually exhibits autosomal dominant inheritance. The term PRS is applied on the basis of the pattern of malformation rather than etiology and growing evidence indicates that the initiating genetic lesion is variable. Various chromosomal anomalies have been associated with PRS including loci on chromosomes 2, 4, and 17. Associations with genes including SOX9, a number of collagen genes and work with animal models suggest the phenotype derives from a cartilage defect during early facial growth. However, alternative theories have been proposed and these highlight the difficulty of characterising congenital anomalies of craniofacial development in which multiple etiologies can result in very similar phenotypes.
皮埃尔·罗宾序列征（PRS）是一组临床特征的组合，包括下颌骨发育不全、腭裂和舌后坠，可导致阻塞性呼吸暂停和喂养困难。PRS可作为一种孤立的病症出现，也可在包括特雷彻·柯林斯综合征和斯蒂克勒综合征在内的多种病症中与一系列其他特征同时出现。PRS三联征的频繁关联提示存在一种共同的潜在发育机制，该机制会影响这些组织中的每一个。孤立性PRS通常为散发性，但家族性病例通常表现为常染色体显性遗传。PRS这一术语是根据畸形模式而非病因来应用的，越来越多的证据表明起始的基因病变是可变的。多种染色体异常与PRS有关，包括2号、4号和17号染色体上的位点。与包括SOX9在内的基因、一些胶原蛋白基因的关联以及动物模型研究表明，该表型源于面部早期生长过程中的软骨缺陷。然而，也有人提出了其他理论，这些理论凸显了表征颅面发育先天性异常的困难，其中多种病因可导致非常相似的表型。
