Potter Deformation Sequence Caused by 17q12 Deletion: A Lethal Constellation

Area of Science:

• Genetics and Developmental Biology
• Medical Case Reports

Background:

• 17q12 deletion syndrome is a genetic disorder associated with diverse phenotypes, including renal, pancreatic, genital, and neurodevelopmental abnormalities.
• The syndrome's spectrum ranges from fetal demise to mild renal impairment in adulthood.

Observation:

• This report details a rare case of 17q12 deletion syndrome diagnosed prenatally.
• The condition was complicated by anhydramnios and Potter sequence, leading to pulmonary and renal insufficiency in the neonate.
• The infant required life-saving interventions but ultimately succumbed to multi-organ failure.

Findings:

• Autopsy revealed severe bilateral multicystic renal dysplasia, pancreatic hypoplasia, and cysts near the Fallopian tubes, consistent with 17q12 deletion.
• Pulmonary hypoplasia and Potter facies were observed as secondary consequences of anhydramnios.
• These findings are correlated with altered molecular signals, particularly involving the HNF1B and LHX1 genes.

Implications:

• This case underscores the severe end of the 17q12 deletion syndrome spectrum and its prenatal impact.
• Understanding the molecular mechanisms involving HNF1B and LHX1 is crucial for comprehending renal and genitourinary development.
• Further research can improve prenatal diagnosis and management strategies for affected individuals.