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Catalog
PPM - Beckwith-Wiedemann Syndrome and Spectrum
Checklist
Checklist
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Pdf Summary
This checklist is designed to assist healthcare providers in managing patient visits for individuals referred for Beckwith-Wiedemann Syndrome (BWS) and Beckwith-Wiedemann Spectrum conditions. It ensures comprehensive documentation and evaluation by highlighting key steps and considerations during consultations.<br /><br />The checklist includes:<br /><br />1. **Reason for Referral**: Documentation of why the patient was referred for evaluation.<br /> <br />2. **Conception and Birth History**: Confirmation and documentation of the type of conception, including the use of assisted reproductive technology, as well as prenatal and birth details like birthweight.<br /><br />3. **Neonatal Hypoglycemia**: Determination of its presence or absence and appropriate documentation.<br /><br />4. **Family History**: A thorough review and documentation of a three-generation family history.<br /><br />5. **Developmental History**: A review of the patient's developmental progress.<br /><br />6. **Current Growth Measurements**: Documentation of growth parameters during the visit.<br /><br />7. **Physical Examination**: Focus on identifying dysmorphic features, body symmetry or asymmetry, and conducting an abdominal palpation.<br /><br />8. **Genetic Testing**: Conducting and documenting appropriate epigenotype analysis of the gene cluster at 11p15.5, along with any additional genetic tests such as microarray or CDKN1C gene sequencing.<br /><br />9. **Tumor Surveillance**: Reviewing recommendations for tumor surveillance and ensuring they are documented.<br /><br />10. **Genetic Counseling**: Providing and documenting genetic counseling, including information on recurrence risk.<br /><br />11. **Resource Provision**: Supplying the family with suitable resources regarding Beckwith-Wiedemann Spectrum.<br /><br />The checklist functions as a streamlined guide to ensure that critical diagnostic and educational components are not overlooked, promoting comprehensive patient care and optimal follow-up for individuals affected by BWS and related conditions.
Keywords
Beckwith-Wiedemann Syndrome
healthcare checklist
patient management
genetic testing
tumor surveillance
genetic counseling
family history
developmental history
physical examination
resource provision
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