PDF(Pubmed)
Abstract：
Johanson-Blizzard syndrome (JBS) is a rare hereditary autosomal recessive disorder caused by a mutation in the ubiquitin protein ligase E3 component n-recognin 1 (UBR1) gene. This syndrome is characterized by the following typical clinical features: hypoplasia or aplasia of the alae nasi, congenital scalp defects, sensorineural hearing loss, hypothyroidism, growth retardation, psychomotor retardation, imperforate anus, genitourinary anomalies, and atypical hair patterns. Here, we describe a case of a 12-year-old girl with JBS of consanguineous parents. During the last trimester of pregnancy, a congenital abnormality affecting the nose was detected. Immediately after birth, the clinical examination revealed dysmorphic features in the form of hypoplastic alae nasi, microcephaly, mild hypotelorism, and cutis aplasia on the scalp. The genetic testing of the patient showed a novel sequence change mutation of the UBR1 gene (1bp duplication causing a frameshift), while both parents were carriers for this mutation. Moreover, a diagnosis of pancreatic insufficiency and subclinical hypothyroidism was made based on clinical presentation and laboratory results. The patient was started on pancreatic enzyme replacement therapy and fat-soluble vitamins, minerals, and antioxidant syrup. Further assessment revealed hypotonia, growth impairment, delay in reaching developmental milestones, and bilateral profound sensorineural hearing loss, which was managed with bilateral cochlear implantation. In addition, the patient underwent multiple craniofacial reconstructive surgeries. This case report highlights the importance of early diagnosis and multidisciplinary care of patients with JBS.
摘要：
Johanson-Blizzard综合征（JBS）是一种罕见的遗传性常染色体隐性遗传疾病，由泛素蛋白连接酶E3成分n-识别蛋白1（UBR1）基因突变引起。该综合征的特征是以下典型的临床特征：鼻翼发育不全或发育不全，先天性头皮缺陷，感觉神经性听力损失,甲状腺功能减退,生长迟缓,精神运动性迟钝,肛门无孔,泌尿生殖系统异常,和非典型的头发图案。这里,我们描述了一个12岁女孩与JBS的近亲的情况。在怀孕的最后三个月，检测到影响鼻子的先天性异常。出生后，临床检查显示畸形特征为发育不全的鼻鼻翼，小头畸形,轻度下位症,头皮上的角质层发育不全.患者的基因检测显示UBR1基因的新序列变化突变（1bp重复导致移码），而父母双方都是这种突变的携带者。此外，根据临床表现和实验室结果诊断胰腺功能不全和亚临床甲状腺功能减退症.患者开始接受胰酶替代疗法和脂溶性维生素,矿物,和抗氧化糖浆。进一步评估显示张力减退，增长减值，延迟达到发展里程碑，和双侧深度感音神经性听力损失，通过双侧人工耳蜗植入进行管理。此外,患者接受了多次颅面重建手术。此病例报告强调了JBS患者早期诊断和多学科护理的重要性。
