Abstract：
This patient is an infant with Williams-Beuren syndrome (WBS) who was diagnosed at 2 months of age. He was born by caesarean section with a low birth weight (LBW) of 2.1 kg and was small for gestational age. His para 1+1 (1 alive) mother in her mid-30s had intrauterine growth restriction during pregnancy. On examination at birth, he appeared phenotypically normal, but at 2 weeks old, he had subtle phenotypic features of WBS of fused filtrum, ulnar deviation of fingers and wide anterior fontanelle, a systolic murmur and mild gaseous distension of the abdomen.All neonatal reflexes were normal. The author saw this patient at 6 months of age at the well-baby clinic for his 6-month vaccinations during which examination revealed periorbital fullness. Investigations including chromosomal microarray analysis confirmed the diagnosis of WBS. Laboratory tests were essentially normal except for raised creatinine, chloride and liver aspartate transaminase and viral serology that showed reactive cytomegalovirus antibody IgG, rubella antibody IgG, toxoplasma IgG and positive herpes simplex virus type 1 IgG. Echocardiography revealed mild pulmonary artery stenosis. ECG revealed right ventricular hypertrophy. Abdominal ultrasonography was normal and so was cranial sonography. This is a unique case of early diagnosis of WBS in an infant with atypical chromosome 7 deletion in Qatar, Middle East. The patient is undergoing further multidisciplinary follow-up.
摘要：
该患者是患有Williams-Beuren综合征(WBS)的婴儿,其在2个月大时被诊断。他是剖腹产出生的，低出生体重（LBW）为2.1kg，小于胎龄。他的第1+1（1个活着的）母亲在30多岁时在怀孕期间宫内生长受限。在出生时检查，他看起来表型正常，但是在两周大的时候，他有融合滤液WBS的微妙表型特征，手指尺骨偏曲和宽前font门，收缩期杂音和腹部轻度气态扩张。所有新生儿反射均正常。提交人在6个月大的婴儿诊所看到这名患者进行了6个月的疫苗接种，在此期间检查显示眶周饱胀。包括染色体微阵列分析在内的研究证实了WBS的诊断。实验室检查基本正常，除了肌酐升高，氯和肝天冬氨酸转氨酶和病毒血清学显示反应性巨细胞病毒抗体IgG，风疹抗体IgG，弓形虫IgG和1型单纯疱疹病毒IgG阳性。超声心动图提示轻度肺动脉狭窄。心电图显示右心室肥大。腹部超声检查正常，头颅超声检查也正常。这是卡塔尔7号染色体非典型缺失婴儿WBS早期诊断的独特病例，中东。患者正在接受进一步的多学科随访。
