Hou Jia-Woei
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, Taoyuan, Taiwan.
J Formos Med Assoc. 2004 Aug;103(8):629-32.
Bardet-Biedl syndrome (BBS) and McKusick-Kaufman syndrome (MKKS) are rare congenital disorders of autosomal recessive inheritance. Because of the phenotypic overlap of both syndromes, including hydrometrocolpos (HMC) and postaxial polydactyly (PAP) in the neonatal stage, the potential for diagnostic confusion exists. A case of BBS with the initial presentation of MKKS is reported. MKKS was diagnosed during the neonatal period based on the classical findings of HMC together with vaginal atresia and PAP. However, follow-up examination after the age of 2 years revealed additional clinical features consistent with BBS, including mental retardation, obesity, and retinitis pigmentosa. A rehabilitation program was undertaken for the problems of moderate motor delay and slurred speech. MKKS may be considered as a variant of BBS. Careful monitoring for the complications of BBS including ophthalmologic, neurologic, and urologic assessments should be performed in patients with MKKS.
巴德-比德尔综合征（BBS）和麦库西克-考夫曼综合征（MKKS）是罕见的常染色体隐性遗传先天性疾病。由于这两种综合征在表型上存在重叠，包括新生儿期的阴道积水（HMC）和轴后多指（PAP），因此存在诊断混淆的可能性。本文报告了一例最初表现为MKKS的BBS病例。根据HMC以及阴道闭锁和PAP的典型表现，在新生儿期诊断为MKKS。然而，2岁以后的随访检查发现了与BBS一致的其他临床特征，包括智力发育迟缓、肥胖和色素性视网膜炎。针对中度运动发育迟缓及言语不清的问题开展了康复计划。MKKS可被视为BBS的一种变异型。对于MKKS患者，应仔细监测BBS的并发症，包括眼科、神经科和泌尿科评估。
