Albanese A, Giuffrè L, Carcione A, Corsello G, Benenati A, Cammarata M, Albano S, Piccione M, Rubino F P, Reina C
Cattedra d'Insegnamento di Radiologia R, Istituto Materno Infantile, Università, Palermo.
Radiol Med. 1991 Mar;81(3):253-61.
Both etiology and pathogenesis of Rubinstein-Taybi syndrome (RTS) are still questionable, even though a genetic factor seems to be certain. A typical face, psychomotor delay, and thumb and halluces abnormalities (big, prevalently short, and often "spoon-like" toes) are the main characteristic patterns of RTS. Eight subjects (4 male and 3 female children aged 26 days-7 years, and a 31-year-old woman, mother of 1 of the affected children) with different signs of RTS were studied over the last 3 years. The results are here reported, with a special emphasis on malformations detected with conventional radiography (Rx), Computerized Tomography (CT), and ultrasound (US). Evaluated parameters were thumbs and halluces (Rx), bone age and skeleton (Rx), cranium (Rx) and encephalon (US, CT), cryptorchidism (US, CT), and urological (Rx, US) and cardiovascular (US) systems. A typical face and psychomotor delay were found in all cases, while thumb and halluces abnormalities were observed only in 6 cases. Among several clinical signs of RTS, we found: severe (less than 3rd centile) bone maturation delay in 4 cases; skull volume reduction (less than 50th centile) in 3 subjects and microcrania in 4; skeletal abnormalities in 7 cases (5 of them positive for bilateral coxofemoral abnormalities); urinary tract (4 cases) and cardiovascular (3 cases) malformations; and cryptorchidism in 3 of 4 males. A case was diagnosed during neonatal period (within the first month of life); it was a rare case associated with a variant form of Dandy-Walker anomaly; semiologic similarities were observed between mother and daughter patients. X-rays, US and CT rarely play an important role in the diagnosis of RTS, considering the several clinical signs, mainly the face, affecting the patients. However, diagnostic imaging techniques help diagnose hidden malformations and confirm and integrate clinical signs.
尽管遗传因素似乎确凿无疑，但鲁宾斯坦-泰比综合征（RTS）的病因和发病机制仍存在疑问。典型面容、精神运动发育迟缓以及拇指和拇趾异常（大、普遍短小且常呈“勺状”脚趾）是RTS的主要特征模式。在过去3年里，对8名有不同RTS体征的受试者进行了研究，其中包括4名男性和3名女性儿童（年龄在26天至7岁之间）以及一名31岁女性（为一名患病儿童的母亲）。在此报告研究结果，特别强调通过传统X线摄影（Rx）、计算机断层扫描（CT）和超声（US）检测到的畸形情况。评估参数包括拇指和拇趾（Rx）、骨龄和骨骼（Rx）、颅骨（Rx）和脑（US、CT）、隐睾症（US、CT）以及泌尿系统（Rx、US）和心血管系统（US）。所有病例均发现有典型面容和精神运动发育迟缓，而仅在6例中观察到拇指和拇趾异常。在RTS的若干临床体征中，我们发现：4例存在严重（低于第3百分位）骨成熟延迟；3名受试者颅骨体积减小（低于第50百分位），4例有小头畸形；7例存在骨骼异常（其中5例双侧髋股骨异常呈阳性）；4例泌尿系统畸形和3例心血管系统畸形；4名男性中有3例隐睾症。1例在新生儿期（出生后第一个月内）被诊断出；这是一例罕见病例，与丹迪-沃克畸形的一种变异形式相关；在母女患者之间观察到了症状学上的相似性。考虑到影响患者的多种临床体征，主要是面容，X线、US和CT在RTS的诊断中很少发挥重要作用。然而，诊断成像技术有助于诊断隐匿性畸形，并确认和补充临床体征。
