Renal function studies in an infant with 4p (-) syndrome.

Area of Science:

• Genetics
• Pediatrics
• Nephrology

Background:

• The 4p deletion syndrome, also known as Wolf-Hirschhorn syndrome, is a rare genetic disorder.
• Urinary tract abnormalities are occasionally reported in association with 4p deletion syndrome, but typically involve gross structural defects.

Observation:

• This report details a case of an infant diagnosed with 4p deletion syndrome.
• The infant presented with significant renal insufficiency, a rare clinical manifestation for this syndrome.

Findings:

• Clinical and functional data suggest the infant had bilateral renal dysplasia.
• This represents a previously undocumented association between 4p deletion syndrome and bilateral renal dysplasia.

Implications:

• This case expands the known spectrum of renal involvement in 4p deletion syndrome.
• Further investigation into renal development and function is warranted for infants with 4p deletion syndrome.