A New Case with Weaver Syndrome: Delineating Natural Course and Growth Pattern, Further Clarifying Clinical Phenotype
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.
Authors
- Nalan Yıldırım (ORCID: https://orcid.org/0000-0002-5344-5367)
- Yağmur Ünsal (ORCID: https://orcid.org/0000-0002-9113-8683)
- Ayşe Derya Buluş (ORCID: https://orcid.org/0000-0003-2865-4420)
- Esra Kılıç (ORCID: https://orcid.org/0000-0003-0522-1809)
Institutions
- Bilkent University (TR)
- Ankara Atatürk Eğitim ve Araştırma Hastanesi (TR)
- Başkent University Hospital (TR)
- Sağlık Bilimleri Üniversitesi (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-10-18
- DOI
- https://doi.org/10.1159/000541476
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00