In utero detection of fetal cataracts
In utero detection of fetal cataracts
复制标题
胎儿白内障的子宫内检测
DOI：
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发表时间：
1993
影响因子：
2.3
通讯作者：
H. C. Crow
中科院分区：
文献类型：
--
作者：
E. Gaary;E. Rawnsley;J. M. Marin;C. L. Morse;H. C. Crow
Lowe综合征或眼-肾-肾综合征是一种X连锁隐性遗传疾病，其特征是先天性白内障、身体和智力发育迟缓以及肾小管功能障碍。1正如Lowe及其同事首次描述的那样，2核心症状是中度至重度智力迟钝（100%），生长障碍（100%）和先天性白内障（100%）。临床特征包括无反射、张力减退、青光眼、非炎性关节肿胀和挛缩。发育迟缓是渐进的，尽管肾小管功能障碍通常在生命的第一年出现。然而，在出生时没有结构性中枢神经系统或肾脏畸形。所有劳氏综合征患儿出生时都有白内障。4该基因已定位于X染色体长臂（Xq 25）。本病例报告描述了与Lowe综合征相关的子宫内白内障的诊断。超声检查是检测胎儿结构异常的主要工具，自20世纪50年代以来一直用于子宫外诊断眼部疾病，但在子宫内发现眼部异常的报告很少。虽然先天性白内障的子宫内诊断已有报道，6但以前尚未对劳氏综合征中的白内障进行产前识别。
Lowe's syndrome or oculo-cerebrol-renal syndrome is an X·linked recessive disorder characterized by congenital cataracts, physical and mental retardation, and renal tubular dysfunction. 1 As first described by Lowe and colleagues,2 the core symptoms are moderate to severe mental retardation (100%), growth failure (100%), and congenital cataracts (100%). Clin· ical features include areflexia, hypotonia, glaucoma, noninflammatory joint swelling, and contractures. Developmental delay is progressive, although renal tubular dysfunction is usually seen in the first year of life. There are, however, no structural central nervous system or renal malformations at birth.J All chiJdren with Lowe's syndrome are born with cataracts. 4 The gene has been mapped to the long arm of the X chromosome (Xq25).s This case report describes the diagnosis of in utero cataracts associated with Lowe syndrome. Sonography is a major tool for the detection of structural fetal anomalies and has been used in the extrauterine diagnosis of eye disorders since the 1950s, yet reports of ocular abnormalities recognized in utero are rare. Although the in utero diagnosis of congenital cataracts has been reported,6 prenatal recognition of cataracts in Lowe's syndrome has not yet been made previously.