Williams Syndrome With Rare Ureteric Abnormality.

Area of Science:

• Genetics
• Pediatrics
• Pathology

Background:

• Williams syndrome (WS), or Williams-Beuren syndrome, is a rare genetic disorder.
• It is characterized by infantile hypercalcemia, developmental delays, distinctive facial features, and cardiovascular abnormalities.
• WS is typically caused by a deletion on chromosome 7 (7q11.23).

Observation:

• This report details an autopsy case of a 16-day-old male infant with a maternal history of WS.
• Prenatal diagnosis revealed supravalvular aortic stenosis and pulmonary stenosis.
• Autopsy showed generalized edema, macrocephaly, facial anomalies, hypertrophied heart with obstructed ventricles, rudimentary aortic root, a unique tortuous left ureter, and small bowel diverticulum.

Findings:

• Cytogenetic analysis confirmed the deletion of chromosome 7 (7q11.23).
• The case demonstrates a familial inheritance pattern of WS.
• Autopsy revealed significant cardiovascular anomalies and previously unreported urinary tract and gastrointestinal findings.

Implications:

• This case underscores the importance of genetic counseling and prenatal diagnosis in families with a history of WS.
• The unique autopsy findings contribute to the understanding of the phenotypic variability in WS.
• Further research into the spectrum of WS-associated anomalies, including rare urinary and gastrointestinal manifestations, is warranted.