An Indian boy with additional features in Pallister-Killian syndrome

Area of Science:

• Genetics
• Clinical Medicine
• Developmental Biology

Background:

• Pallister-Killian syndrome (PKS) is a rare genetic disorder characterized by mosaic tetrasomy of chromosome 12p.
• Key features include pigmentary skin changes, dysmorphology, developmental delay, and intellectual disability.

Observation:

• A 2-year-old boy presented with pigmentary skin changes, characteristic facial features, developmental delay, and hearing loss.
• Additional findings included sacral and post-auricular pits, which are not previously reported in PKS cases.
• Clinical suspicion of PKS was based on the constellation of presenting symptoms.

Findings:

• Diagnosis was confirmed by skin fibroblast culture revealing mosaic tetrasomy of isochromosome 12p.
• This genetic finding is consistent with Pallister-Killian syndrome.
• The case underscores the diagnostic utility of recognizing dysmorphic features.

Implications:

• Accurate diagnosis of PKS is crucial for appropriate genetic counseling.
• Early recognition of dysmorphology aids in identifying rare genetic syndromes.
• This case expands the phenotypic spectrum associated with Pallister-Killian syndrome.