Asif Mariam, Aziz Tariq, Altaf Samer, Sattar Rukhsana Abdul
J Ayub Med Coll Abbottabad. 2014 Oct-Dec;26(4):625-7.
Laurence Moon Bardet Biedl Syndrome is a rare genetic disorder. Consanguineous marriage is usually the common cause. Principal features of Bardet Biedl Syndrome are red cone dystrophy, obesity, polydactyl, hypogonadism and renal anomalies. The diagnosis was overlooked in our patient until he came in our hospital. We here report an infrequent case of autosomal recessive disorder with Anaemia.
劳伦斯-穆恩-巴德-比德尔综合征是一种罕见的遗传性疾病。近亲结婚通常是其常见病因。巴德-比德尔综合征的主要特征是视锥细胞营养不良、肥胖、多指畸形、性腺功能减退和肾脏异常。我们的患者在来我院之前,其诊断一直被忽视。我们在此报告一例罕见的伴有贫血的常染色体隐性疾病病例。