PFEIFFER SYNDROME UPDATE, CLINICAL SUBTYPES, AND GUIDELINES FOR DIFFERENTIAL-DIAGNOSIS
PFEIFFER SYNDROME UPDATE, CLINICAL SUBTYPES, AND GUIDELINES FOR DIFFERENTIAL-DIAGNOSIS
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普法氏综合征更新、临床亚型和鉴别诊断指南
DOI：
10.1002/ajmg.1320450305
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发表时间：
1993-02-01
期刊：
影响因子：
--
通讯作者：
COHEN, MM
中科院分区：
文献类型：
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作者：
COHEN, MM
迄今为止，除了至少十几个散发病例外，还记录了七个普法伊弗综合征家系（三个第三代和四个第二代）。具有完全外显率的常染色体显性遗传是 7 个家族病例的特征。可变表达性主要涉及并指的存在或不存在以及并指存在的程度。经典的 Pfeiffer 综合征被指定为 1 型。2 型由三叶草头骨、Pfeiffer 手和脚以及肘部强直组成。此类患者的情况很差，会过早死亡。迄今为止所有报告的实例都是零星的。 3型与2型相似，但没有立体叶状头骨。眼球突出程度严重，前颅底明显短小。这些患者的情况也很差，并且往往会过早死亡。迄今为止，所有病例都是零星发生的。尽管这 3 种临床亚型不具有独立实体的地位，但它们的诊断和预后意义很重要。 1 型通常与正常智力、一般良好的结果相关，并且可以在某些家庭中发现显性遗传。 2型和3型一般有严重的神经损害，预后差，早亡，散发。 3 型的识别尤为重要，因为在没有三叶草头骨但伴有各种内脏异常的情况下，极端眼突可能导致无法诊断 Pfeiffer 综合征，并将患者标记为“未知”或“新识别的实体”。3 型以及其他临床亚型的主要诊断线索仍然是与颅缝早闭相关的经典 Pfeiffer 手脚，无论颅面变异性或内脏异常的存在或不存在。拇趾宽度与第二脚趾宽度的比率被开发出来，为菲佛综合征中宽大脚趾的构成提供指导。然后对不符合菲佛综合征的病例进行审查。
Seven Pfeiffer syndrome pedigrees (three 3 generation and four 2 generation) have been recorded to date in addition to at least a dozen sporadic cases. Autosomal dominant inheritance with complete penetrance is characteristic of the 7 familial instances. Variable expressivity has involved mostly the presence or absence of syndactyly and the degree of syndactyly when present.Classic Pfeiffer syndrome is designated type 1. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet together with ankylosis of the elbows. Such patients do poorly with an early death. All reported instances to date have been sporadic. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe in degree and the anterior cranial base is markedly short. These patients also do poorly and tend to have an early death. To date all cases have occurred sporadically.Although these 3 clinical subtypes do not have status as separate entities, their diagnostic and prognostic implications are important. Type 1 is commonly associated with normal intelligence, generally good outcome, and can be found dominantly inherited in some families. Types 2 and 3 generally have severe neurological compromise, poor prognosis, early death, and sporadic occurrence. Recognition of type 3 is particularly important because extreme ocular proptosis in the absence of cloverleaf skull but with various visceral anomalies can result in failure to diagnose Pfeiffer syndrome and labeling the patient as an ''unknown'' or as a ''newly recognized entity.'' The major diagnostic clues in type 3, as well as in the other clinical subtypes, remain classic Pfeiffer hands and feet in association with craniosynostosis, regardless of craniofacial variability or the presence or absence of visceral anomalies.A ratio of hallucal width to second toe width is developed to provide guidelines for what constitutes a broad great toe in Pfeiffer syndrome. Cases that do not qualify as examples of Pfeiffer syndrome are then reviewed.