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首页> 外文期刊>Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function >A Report of Two cases of Al-Awadi Raas-Rothschild Syndrome (AARRS) supporting that 'Apparent' Phocomelia differentiates AARRS from Schinzel Phocomelia Syndrome (SPS)
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A Report of Two cases of Al-Awadi Raas-Rothschild Syndrome (AARRS) supporting that 'Apparent' Phocomelia differentiates AARRS from Schinzel Phocomelia Syndrome (SPS)

机译：关于两例Al-Awadi Raas-Rothschild综合征（AARRS）的报告，该报告支持“表观”菌苗区分AARRS和Schinzel菌苗综合征（SPS）

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摘要

Although there is a long list of syndromes with phocomelia, there are only two syndromes in which there is concurrent pelvic dysplasia and phocomelia: Al-Awadi-Raas-Rothschild syndrome (AARRS) and Schinzel phocomelia syndrome (SPS). Currently, there is a diagnostic confusion between the two syndromes and both have the same MIM entry (MIM 276820). We believe that the two syndromes are different entities and we also believe that the limb defect in SPS is a "true" phocomelia while the limb defect in AARRS is an "apparent" phocomelia. "Apparent" phocomelia describes the most severe form of ulnar ray deficiency in which there is absent ulna with radio-humeral synostosis. "Apparent" phocomelia is diagnosed radiologically by three radiological features: the apparently single bone occupying the arm/forearm appears relatively long, the area of radio-humeral synostosis will have thicker cortex with or without slight angulation, and the lower end of the bone resembles the lower end of a radius and not a humerus. In this paper, we present two new cases of AARRS from two different Saudi Arabian tribes: one case with R292C mutation of WNT7A with bilateral "apparent" phocomelia and a second case with a novel c.814G>T mutation of the WNT7A gene (resulting in wnt7a protein truncation at position 272) with unilateral "apparent" phocomelia. We reviewed previously reported cases of AARRS and SPS to further delineate the differences between these two syndromes. We make the argument that these two syndromes are two different entities and hence require two different MIM entries.
机译：尽管有大量的腓肠肌综合症综合征，但只有两种并发性盆腔发育不良和腓肠肌综合症：Al-Awadi-Raas-Rothschild综合征（AARRS）和Schinzel phocomelia综合征（SPS）。当前，这两种综合症之间存在诊断混乱，并且两者具有相同的MIM条目（MIM 276820）。我们认为这两种综合征是不同的实体，我们还认为SPS中的肢体缺损是“真实的” phocomelia，而AARRS中的肢体缺损是“明显的” phocomelia。 “表观” phocomelia描述了最严重的尺骨射线缺乏症，其中不存在尺骨并伴有放射性-肱骨骨膜增生。放射学上可通过以下三个放射学特征诊断出“明显的” phocomelia：占据手臂/前臂的明显单骨显得相对较长，放射性肱骨前突的区域将具有较厚的皮层，有或没有轻微的成角度，并且骨的下端类似于半径的下端而不是肱骨。在本文中，我们介绍了来自两个不同的沙特阿拉伯部落的两个新的AARRS病例：一例带有WNT7A的R292C突变并伴有双侧“表观”肉眼，另一例带有WNT7A基因的新型c.814G> T突变（结果wnt7a蛋白在272位被截短），并伴有单侧“表观” phocomelia。我们回顾了先前报道的AARRS和SPS病例，以进一步描述这两种综合征之间的差异。我们认为这两个综合症是两个不同的实体，因此需要两个不同的MIM条目。

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