PPM - Beckwith-Wiedemann Syndrome and Isolated Lateralized Overgrowth (Isolated Hemihyperplasia or Hemihypertrophy)-Checklist

Checklist

Pdf Summary

This document provides a checklist for healthcare professionals to use during patient visits for individuals with Beckwith-Wiedemann Syndrome (BWS) and Isolated Lateralized Overgrowth (Isolated Hemihyperplasia or Hemihypertrophy). The checklist covers various aspects of history, examination, laboratory testing, surveillance, and counseling.<br /><br />In terms of history, the checklist includes reviewing the diagnosis and documentation, as well as reviewing the conception, prenatal, and birth history. Special attention is given to whether the patient was conceived through assisted reproductive technology or if hypoglycemia was observed during the neonatal period. The checklist also suggests reviewing the family history and documenting the developmental history.<br /><br />During the examination, healthcare professionals are advised to review and document the height, weight, and occipitofrontal circumference percentiles. They should also pay attention to dysmorphic features, neurocutaneous findings, regional body undergrowth, and perform abdominal palpation.<br /><br />Laboratory testing recommendations include considering and performing a karyotype or microarray as appropriate. Additionally, healthcare professionals should consider the constitutional epigenotype involving the gene cluster at 11p15.5 and document any maternal point mutations in CDKN1C.<br /><br />Surveillance recommendations include abdominal ultrasounds every three months until age 8 years, serum alpha-fetoprotein measurements every three months until age 4 years, and renal ultrasound with urinary calcium/creatinine ratio annually or periodically in adults to evaluate for nephrocalcinosis.<br /><br />Lastly, healthcare professionals are advised to review and document recurrence risk and prenatal counseling, as well as offer resources and discuss appropriate surveillance and therapies with the patient.<br /><br />Overall, this checklist serves as a guide for healthcare professionals to ensure comprehensive care and monitoring for individuals with BWS and isolated lateralized overgrowth.

Keywords

healthcare professionals

patient visits

Beckwith-Wiedemann Syndrome

Isolated Lateralized Overgrowth

checklist

history

examination

laboratory testing

surveillance

counseling