შეჯამება
განსაზღვრება
病史和体格检查
关键诊断因素
- central hypotonia
- poor suck
- weak cry
- feeding difficulties
- hypogonadism
- weight gain and hyperphagia
其他诊断因素
- developmental delay
- cognitive disability
- endocrine disorders
- sleep abnormalities
- behavioral abnormalities
- psychiatric disorders
- short stature
- small hands and feet
- hypopigmentation
- ocular problems
- spinal deformities
- polyhydramnios
- decreased fetal movements
- developmental dysplasia of the hip
- seizures
- premature adrenarche
危险因素
- older maternal age (>35 years)
- hydrocarbon exposure
- conception using assisted reproductive technology
- sibling with Prader-Willi syndrome (PWS)
诊断性检查
首要检查
- DNA methylation testing
需考虑的检查
- further genetic testing
治疗流程
with acute illness
without acute illness
撰稿人
作者
Jennifer Miller, MD
Professor of Pediatric Endocrinology
University of Florida
Gainesville
FL
利益声明
JM declares that she has no competing interests.
同行评议者
Nicola Bridges, DM, MRCP, FRCPCH
Consultant Paediatric Endocrinologist
Chelsea and Westminster Hospital
London
UK
利益声明
NB declares she has no competing interests.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
参考文献
关键文献
Duis J, van Wattum PJ, Scheimann A, et al. A multidisciplinary approach to the clinical management of Prader-Willi syndrome. Mol Genet Genomic Med. 2019 Mar;7(3):e514.全文 摘要
McCandless SE, Committee on Genetics. Clinical report - health supervision for children with Prader-Willi syndrome. Pediatrics. 2011 Jan;127(1):195-204.全文 摘要
International Prader-Willi Syndrome Organisation. Guides for doctors: consensus documents. [internet publication].全文
参考文献
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
鉴别诊断
- Spinal muscular atrophy
- Angelman syndrome
- Temple syndrome
更多 鉴别诊断Guidelines
- Guides for doctors: consensus documents
- Health supervision for children with Prader-Willi syndrome
更多 GuidelinesPatient information
Weight problems in adults: questions to ask your doctor
Obesity and overweight in children: support and treatment
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