Ünsal Yağmur, Yıldırım Nalan, Buluş Ayşe Derya, Kılıç Esra
Department of Pediatric Endocrinology, Ankara Atatürk Sanatoryum Training and Research Hospital, Ankara, Turkey.
Department of Pediatric Genetics, University of Health Sciences, Bilkent City Hospital, Ankara, Turkey.
Mol Syndromol. 2025 Apr;16(2):187-193. doi: 10.1159/000541476. Epub 2024 Oct 18.
Weaver syndrome, rare syndromic cause of tall stature, presents with overgrowth, accelerated skeletal maturation, dysmorphic features, and camptodactly. Despite expanding knowledge and widespread use of genetic tests, differential diagnosis of tall statue may be challenging, complicating follow-up. Here we describe a patient with a variant in , underlining presenting features and natural course.
Twenty-month-old girl consulted for tall stature was born at term (birthweight: 2,600 g [-0.8 SDS], birth length: 54 cm [2.4 SDS]) as the third child of non-consanguineous parents. Without any other complaints, she was 15.2 kg (2.5 SDS) and her height was 95 cm (3.1 SDS). She was proportionately tall compared to her parents (target height: 156 cm [-1.1 SDS]). Endocrine evaluation did not reveal pathology, growth traced parallel to 97th percentile of growth curve. Karyotype analysis and fibrillin gene analysis were normal. As she had mild intellectual disability and minor dysmorphic features (broad forehead, mild hypertelorism, long philtrum, thin upper lip and a prominent chin dimple, bilateral camptodactyly), whole exome analysis including copy number variant changes that revealed a heterozygous variant on was performed when she was 14 years old. Weaver syndrome was diagnosed.
Tall stature, height SDS exceeding target height SDS, tall stature at birth, normal growth rate, minor dysmorphic features, and mild intellectual disability should prompt syndromic etiology of tall stature. Further genetic analysis should be implemented. Diagnosis of rare syndromes is crucial for defining prognosis, organ involvement, and natural course, avoiding unnecessary endocrine investigations.
韦弗综合征是导致身材高大的罕见综合征病因，表现为生长过速、骨骼成熟加速、畸形特征和手指弯曲挛缩。尽管基因检测的知识不断扩展且应用广泛，但身材高大的鉴别诊断仍可能具有挑战性，使随访复杂化。在此，我们描述一名携带[具体基因]变异的患者，强调其临床表现和自然病程。
一名因身材高大前来咨询的20个月大女孩足月出生（出生体重：2600克[-0.8标准差]，出生身长：54厘米[2.4标准差]），是非近亲父母的第三个孩子。无其他不适，体重15.2千克（2.5标准差），身高95厘米（3.1标准差）。与父母相比，她身材相对较高（目标身高：156厘米[-1.1标准差]）。内分泌评估未发现病理情况，生长轨迹与生长曲线的第97百分位平行。核型分析和原纤维蛋白基因分析均正常。由于她有轻度智力障碍和轻微畸形特征（宽额头、轻度眼距增宽、人中长、上唇薄和明显的下巴酒窝、双侧手指弯曲挛缩），14岁时进行了包括拷贝数变异变化的全外显子组分析，结果显示[具体基因]存在杂合变异，诊断为韦弗综合征。
身材高大、身高标准差超过目标身高标准差、出生时身材高大、生长速率正常、轻微畸形特征和轻度智力障碍应提示身材高大的综合征病因。应进一步进行基因分析。罕见综合征的诊断对于确定预后、器官受累情况和自然病程至关重要，可避免不必要的内分泌检查。
