THE LENZ MICROPHTHALMIA SYNDROME
THE LENZ MICROPHTHALMIA SYNDROME
复制标题
DOI：
10.1016/0002-9394(88)90119-5
复制
发表时间：
1988-01-15
影响因子：
4.2
通讯作者：
MAUMENEE, IH
中科院分区：
文献类型：
--
作者：
TRABOULSI, EI;LENZ, W;MAUMENEE, IH
我们检查了两名伦茨小眼综合征患者。将这2例患者的结果与文献中其他10例患者的结果合并，观察到以下异常：所有患者的小眼球; 11例患者（92%）的发育迟缓; 10例患者（83%）的外耳异常; 10例患者（83%）的小头畸形; 9例患者（75%）的眼睑下垂;骨骼异常结果：10例患者中，8例（67%）存在手指畸形（不包括手指畸形），8例（67%）存在牙齿数目和位置异常，7例（58%）存在手指畸形，6例（50%）存在泌尿生殖系统畸形，8例（67%）存在牙齿数目和位置异常，8例（67%）存在牙齿数目和位置异常。唇腭裂畸形4例（33%）。罕见心脏畸形、痉挛性双瘫、耳聋、骶凹、蹼颈及异常皮纹。我们的两个病人之一有一个脱位的透镜和视网膜脱离。
We examined two patients with the Lenz microphthalmia syndrome. When findings from these two patients and those from ten other patients in the literature were combined, the following abnormalities were observed: microphthalmos in all patients; development retardation in 11 patients (92%); external ear abnormalities in ten patients (83%); microcephaly in ten patients (83%); blepharoptosis in nine patients (75%); skeletal anomalies (excluding digital anomalies) in eight patients (67%); dental abnormalities of number and position in eight patients (67%); digital anomalies in seven patients (58%); urogenital anomalies in six patients (50%); and cleft lip and palate abnormalities in four patients (33%). Cardiac anomalies, imperforate anus, hearing loss, spastic diplegia, sacral pits, webbed neck, and abnormal dermatoglyphs were rarely seen. One of our two patients had a dislocated lens and retinal detachment.