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[索托综合征(脑性巨人症)]

[Soto's syndrome (cerebral gigantism)].

作者信息

Jović N S, Vranjesević D N, Jović J Z, Marinković D D

机构信息

Department of Neurology and Psychiatry for Children and Youth, University School of Medicine, Belgrade.

出版信息

Srp Arh Celok Lek. 1996 Jan-Feb;124(1-2):37-40.

PMID:9102812
Abstract

In 1964, Sotos and co-workers defined a syndrome of advanced height and bone maturation, dating from birth, mental deficiency and unusual craniofacial appearance with acromegaloid features. About 200 cases have subsequently been reported, more often in males. Occurrence is sporadic, but inheritance may be dominant autosomal. The aetiology is unknown. A two- and a half-year-old boy with Sotos's syndrome is described. He was the first-born child of non-sanguineous healthy parents. The family history revealed no congenital abnormalities and no mental retardation. The proband was born at 36 weeks of gestation with a weight of 4100 g (> P97), length of 53 cm (> P90) and occipital-frontal circumference of 36 cm. His postnatal sornatic linear growth was excessive taking a curve above the 97th percentile. Skeletal maturation and bone age were accelerated. Premature eruption of teeth was observed. Clinical features included macroencephaly, dolichocephaly with a prominent forehead, down-slanting palpebral fissures, hypertelorism, high-arched palate and large hands and feet. His mental deficiency was mild (IQ = 60) with delay of early psychomotor development and expressive language. His karyotype was normal. The CT brain scans revealed mild ventricular dilatation and some cortical atrophy. Electroencephalographic records showed localised theta activity. Endocrinological and metabolic studies failed to show andy definite abnormality.

摘要

1964年,索托斯及其同事定义了一种综合征,其特征为出生时即身材高大、骨骼成熟提前、智力缺陷以及具有肢端肥大症样特征的特殊颅面外观。随后报道了约200例病例,男性更为常见。发病为散发性,但遗传方式可能为常染色体显性遗传。病因不明。本文描述了一名患有索托斯综合征的两岁半男孩。他是健康的非近亲父母的头胎。家族史显示无先天性异常及智力发育迟缓。先证者孕36周出生,体重4100克(>第97百分位数),身长53厘米(>第90百分位数),枕额周长36厘米。其出生后的身体线性生长过度,曲线高于第97百分位数。骨骼成熟和骨龄加速。观察到牙齿过早萌出。临床特征包括巨头畸形、长头畸形伴前额突出、睑裂向下倾斜、眼距增宽、高拱腭以及大手大脚。其智力缺陷较轻(智商=60),伴有早期精神运动发育和表达性语言延迟。其核型正常。脑部CT扫描显示轻度脑室扩张及一些皮质萎缩。脑电图记录显示局部θ活动。内分泌和代谢研究未显示任何明确异常。

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