Aksoy Ayşe, Karagüzel Gülay, Akbulut Ulaş, Türk Adem
Department of Pediatrics, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.
Turk J Pediatr. 2011 Jul-Aug;53(4):460-3.
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with a wide spectrum of clinical manifestations. BBS is predominantly characterized by dysmorphic distal extremities, obesity, structural abnormalities or functional impairment of the kidney, rod cone dystrophy, and varying degrees of mental retardation. Hypogenitalism is also present, only in males, and in all cases, facial similarities. We present herein two sisters with BBS, one of whom also had cerebellar vermis hypoplasia and cerebral and cerebellar atrophy, and both of whom had ocular abnormalities in the form of epicanthus and telecanthus and metabolic syndrome. It should also be emphasized that the occurrence of cerebellar involvement such as cerebellar vermis hypoplasia and cerebellar atrophy in BBS is very unusual. The association of abnormalities in brain development and other facial features in children with BBS is not seen frequently; thus, these abnormalities should be searched carefully.
巴德-比德尔综合征（BBS）是一种罕见的常染色体隐性疾病，临床表现多样。BBS的主要特征是四肢远端畸形、肥胖、肾脏结构异常或功能损害、视杆视锥营养不良以及不同程度的智力发育迟缓。性腺功能减退仅见于男性患者，且所有患者均有面部相似特征。我们在此报告两例患有BBS的姐妹，其中一人还患有小脑蚓部发育不全以及大脑和小脑萎缩，两人均有内眦赘皮和眼距增宽等眼部异常以及代谢综合征。还应强调的是，BBS患者出现小脑受累情况，如小脑蚓部发育不全和小脑萎缩，是非常罕见的。BBS患儿出现脑发育异常与其他面部特征的关联并不常见；因此，应仔细排查这些异常情况。
