Clinical overlap of Beckwith‐Wiedemann, Perlman and Simpson‐Golabi‐Behmel syndromes: a diagnostic pitfall
Clinical overlap of Beckwith‐Wiedemann, Perlman and Simpson‐Golabi‐Behmel syndromes: a diagnostic pitfall
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Beckwith-Wiedemann、Perlman 和 Simpson-Golabi-Behmel 综合征的临床重叠：诊断陷阱
DOI：
10.1111/j.1399-0004.1995.tb04307.x
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发表时间：
1995
影响因子：
3.5
通讯作者：
L. Koulischer
中科院分区：
文献类型：
--
作者：
A. Verloes;B. Massart;I. Dehalleux;J. Langhendries;L. Koulischer
我们报道了一名在新生儿期死亡的儿童。主要的外部异常包括胎儿过度生长、巨舌症和生殖器不清(小阴茎和会阴阴囊下裂伴隐睾症)。尸检显示右侧大的横隔疝、内脏肿大、多囊肾发育不良、朗格汉斯胰岛增生、肾母细胞瘤、多发性肾上腺腺瘤和发育不良的睾丸。这名儿童说明了新生儿期过度生长综合征的鉴别诊断的困难，以及Beckwith-Wiedemann、Denys-Drash、Simpson-Golabi-Behmel、Perlman和可能的Meacham-Winn综合征的表型重叠。Simpson-Golabi-Behmel综合征被认为是最有可能的诊断。如果这一观点是正确的，那么Simpson-Golabi-Behmel综合征的临床谱系中应该增加生殖器不清、羊水过多和肾母细胞瘤。考虑到复发风险的差异，上述各证型之间的鉴别诊断对于准确的遗传咨询具有重要意义。本病例强调需要对疑似患有Simpson-Golabi-Behmel综合征的患者进行长期调查，这些患者可能有患胚胎肿瘤的风险。
We report on a child who died in the neonatal period. Major external anomalies included foetal overgrowth, macroglossia, and ambiguous genitalia (micropenis and perineoscrotal hypospadias with cryptorchidism). Necropsy showed a large right diaphragmatic hernia, visceromegaly, multicystic kidney dysplasia, Langerhans islet hyperplasia, nephroblastomatosis, multiple adrenal adenomas, and dysplastic testicles. The child illustrates the difficulties of the differential diagnosis of overgrowth syndromes in the neonatal period, and the phenotypic overlap of Beckwith‐Wiedemann, Denys‐Drash, Simpson‐Golabi‐Behmel, Perlman and possibly Meacham‐Winn syndromes. Simpson‐Golabi‐Behmel syndrome was felt to be the most likely diagnosis. If this opinion is correct, genital ambiguity, hydramnios and nephroblastomatosis should be added to the clinical spectrum of Simpson‐Golabi‐Behmel syndrome. Differential diagnosis between the above‐mentioned syndromes is of major importance for accurate genetic counseling, considering the differences in recurrence risk. The present case underlines the need for longterm survey of patients suspected of having Simpson‐Golabi‐Behmel syndrome, who could be at risk for embryonic tumours.
Wilms 肿瘤中 11p DNA 序列肿瘤特异性丢失的遗传机制。
影响因子：
9.8
作者：
Dao,DD;Schroeder,WT;Chao,LY;Kikuchi,H;Strong,LC;Riccardi,VM;Pathak,S;Nichols,WW;Lewis,WH;Saunders,GF
通讯作者：
Saunders,GF