Passos-Bueno M R, Marie S K, Monteiro M, Neustein I, Whittle M R, Vainzof M, Zatz M
Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Brazil.
Am J Med Genet. 1994 Aug 15;52(2):170-3. doi: 10.1002/ajmg.1320520209.
Knobloch syndrome is a rare genetic disorder characterized by high myopia, vitreoretinal degeneration with retinal detachment and occipital cephalocele. The inheritance has been described as autosomal recessive (AR) but in addition to the original report with 5 affected patients [Knobloch and Layer, 1971] only one other family with 2 affected sibs has been described [Czeizel et al., 1992]. We have studied a large consanguineous kindred in which there are 12 patients with severe ocular alterations associated with a congenital occipital encephalocele, compatible with the diagnosis of Knobloch syndrome. CT scan and MRI performed in one of the patients, allowed a better understanding of the cranial and ocular alterations in this syndrome. The pattern of occurrence in this highly inbred family clearly confirms autosomal recessive inheritance of Knobloch syndrome.
诺布罗赫综合征是一种罕见的遗传性疾病，其特征为高度近视、伴有视网膜脱离的玻璃体视网膜变性和枕部脑膨出。该疾病的遗传方式被描述为常染色体隐性遗传（AR），但除了最初报道的5例患病患者外[诺布罗赫和莱尔，1971年]，仅另有一个家庭被描述有2名患病同胞[采泽尔等人，1992年]。我们研究了一个大家族，其中有12名患者患有与先天性枕部脑膨出相关的严重眼部病变，符合诺布罗赫综合征的诊断。对其中一名患者进行的CT扫描和MRI检查，有助于更好地了解该综合征的颅脑和眼部病变。这个高度近亲结婚的家族中的发病模式清楚地证实了诺布罗赫综合征的常染色体隐性遗传。
