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Prader-Willi syndrome

ბოლო მიმოხილვა: 18 Aug 2025
ბოლო განახლება: 10 Dec 2024

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
完整详情

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
完整详情

危险因素

  • older maternal age (>35 years)
  • hydrocarbon exposure
  • conception using assisted reproductive technology
  • sibling with Prader-Willi syndrome (PWS)
完整详情

诊断性检查

首要检查

  • DNA methylation testing
完整详情

需考虑的检查

  • further genetic testing
完整详情

治疗流程

急症处理

with acute illness

持续性治疗

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

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

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.
  • Prader-Willi syndrome images
  • 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 Guidelines
  • Patient information

    Weight problems in adults: questions to ask your doctor

    Obesity and overweight in children: support and treatment

    More Patient information
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