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- Title
Wiedemann–Steiner Syndrome: Case Report and Review of Literature.
- Authors
Yu, Huan; Zhang, Guijiao; Yu, Shengxu; Wu, Wei
- Abstract
Wiedemann–Steiner syndrome (WDSTS) is an autosomal dominant disorder with a broad and variable phenotypic spectrum characterized by intellectual disability, prenatal and postnatal growth retardation, hypertrichosis, characteristic facial features, behavioral problems, and congenital anomalies involving different systems. Here, we report a five-year-old boy who was diagnosed with WDSTS based on the results of Trio-based whole-exome sequencing and an assessment of his clinical features. He had intellectual disability, short stature, hirsutism, and atypical facial features, including a low hairline, down-slanting palpebral fissures, hypertelorism, long eyelashes, broad and arching eyebrows, synophrys, a bulbous nose, a broad nasal tip, and dental/oral anomalies. However, not all individuals with WDSTS exhibit the classic phenotype, so the spectrum of the disorder can vary widely from relatively atypical facial features to multiple systemic symptoms. Here, we summarize the clinical and molecular spectrum, diagnosis and differential diagnosis, long-term management, and care planning of WDSTS to improve the awareness of both pediatricians and clinical geneticists and to promote the diagnosis and treatment of the disease.
- Subjects
LANGUAGE disorder diagnosis; MUSCULOSKELETAL system diseases; PROFESSIONS; ENDOCRINE diseases; NEUROLOGICAL disorders; HAIR diseases; CHILD development; CRYPTORCHISM; GENETIC testing; DIFFERENTIAL diagnosis; GASTROINTESTINAL diseases; DEVELOPMENTAL disabilities; MULTIPLE human abnormalities; HUMAN growth hormone; CHROMOSOME abnormalities; GENITOURINARY organ abnormalities; PEOPLE with intellectual disabilities; DISEASE management; DISEASE complications
- Publication
Children, 2022, Vol 9, Issue 10, p1545
- ISSN
2227-9067
- Publication type
Article
- DOI
10.3390/children9101545