Baskin Esra, Kayiran Sinan Mahir, Oto Sibel, Alehan Füsun, Agildere A Muhtesem, Saatçi Umit
Department of Pediatrics, Başkent University Faculty of Medicine, Ankara, Turkey.
J Child Neurol. 2002 May;17(5):385-7. doi: 10.1177/088307380201700514.
Laurence-Moon-Bardet-Biedl syndome is an autosomal recessive condition characterized by retinal dystrophy, obesity, mental retardation, distal limb anomaly, hypogonadism, and renal dysfunction. The symptoms vary among families and even among affected siblings. Certain clinical signs have been used to identify subgroups of patients with this complex condition. Laurence-Moon syndrome as a distinct entity is rare and features paraplegia in the absence of polydactyly or obesity. Bardet-Biedl syndrome is characterized by distal limb anomaly, obesity, and renal involvement, but neurologic symptoms are very unusual. We report a patient exhibiting characteristic features of Bardet-Biedl syndrome in addition to cerebellar vermis hypoplasia and mega cisterna magna.
劳伦斯-穆恩-巴德-比德尔综合征是一种常染色体隐性疾病，其特征为视网膜营养不良、肥胖、智力发育迟缓、肢体远端畸形、性腺功能减退和肾功能障碍。症状在不同家庭之间甚至在受影响的兄弟姐妹之间都有所不同。某些临床体征已被用于识别患有这种复杂疾病的患者亚组。作为一种独特实体的劳伦斯-穆恩综合征很罕见，其特征是在没有多指畸形或肥胖的情况下出现截瘫。巴德-比德尔综合征的特征是肢体远端畸形、肥胖和肾脏受累，但神经症状非常罕见。我们报告了一名患者，除了小脑蚓部发育不全和大脑大池增大外，还表现出巴德-比德尔综合征的特征性表现。
