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首页> 外文期刊>American journal of medical genetics, Part A >The FG syndrome: report of a large Italian series.
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The FG syndrome: report of a large Italian series.

机译：FG综合征：大量意大利报道。

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Initially described as a rare MCA/MR syndrome occurring only in boys, due to a recessive mutation on the X chromosome [Opitz and Kaveggia, 1974], the FG syndrome (FGS) now emerges as a more common disorder also occurring in girls. Based on over 50 reported cases, FGS is associated with developmental delay (especially speech), hypotonia, postnatal onset relative macrocephaly, prominent forehead, frontal hair upsweep, telecanthus, or ocular hypertelorism, thin vermilion border of the upper lip, relatively short fingers with broad thumbs and halluces, persistent fetal fingertip pads, anal anomalies, and/or constipation. Major malformations are rare, and include pyloric stenosis, anal agenesis, cryptorchidism, hypospadias, and congenital heart defects. Abnormal EEGs and seizures have been reported in almost 70% of patients. Brain MRI shows corpus callosum abnormalities associated with dilatation of lateral ventricles and, less frequently, periventricular nodular heterotopias, mild cerebellar defects, and reduced periventricular white matter. Chiari 1 malformation seems to be frequent. The behavior phenotype appears to be characterized by ADHD, and relatively less developed language, fine motor and executive function skills; whereas visual-spatial abilities seem to be a relative strength. Five candidate loci are already known but no gene identified. We describe 25 patients referred to the Stella Maris Institute for evaluation of DD/MR, and diagnosed as FGS. They were between 2 and 15 1/2 years at the first observation. High resolution banding, FRAXA/FRAXE DNA analysis, and subtelomere FISH analysis were performed in all of them, and all had normal results. Thirteen patients were followed-up from 6 months to 9 years. Our report focuses on physical, neurological, developmental findings, and natural history of FGS. Experience with our series of patients suggests that the syndrome may be common, and should be routinely considered in the evaluation of children and adolescents with DD/MR.
机译：最初被描述为仅在男孩中发生的罕见MCA / MR综合征，由于X染色体上的隐性突变[Opitz and Kaveggia，1974]，现在，FG综合征（FGS）作为女孩中也较常见的疾病而出现。根据报告的50多个病例，FGS与发育迟缓（尤其是言语），肌张力减退，产后发作相对大头畸形，额头突出，额头毛发清扫，畸形棘突或眼部玻璃体肥大，上唇朱红边界薄，手指相对短而相关。宽阔的拇指和幻觉，持续的胎儿指尖垫，肛门异常和/或便秘。主要畸形很少见，包括幽门狭窄，肛门发育不全，隐睾，尿道下裂和先天性心脏缺陷。据报道，近70％的患者出现异常的脑电图和癫痫发作。脑部MRI显示call体畸形与侧脑室扩张有关，而较少见的是脑室周围结节性异位症，轻度小脑缺损和脑室周围白质减少。 Chiari 1畸形似乎很常见。行为表型的特征是多动症，相对不发达的语言，良好的运动和执行功能技能。而视觉空间能力似乎是一种相对优势。五个候选基因座是已知的，但未鉴定出基因。我们描述了25例转诊至Stella Maris研究所进行DD / MR评估并诊断为FGS的患者。在第一次观察时，它们在2到15 1/2年之间。所有患者均进行了高分辨率条带，FRAXA / FRAXE DNA分析和亚端粒FISH分析，均获得正常结果。 13例患者均获随访，时间从6个月至9年。我们的报告侧重于FGS的生理，神经，发育发现和自然病史。我们一系列患者的经验表明，该综合征可能很常见，在评估DD / MR的儿童和青少年时应常规考虑。

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