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Pallister-Hall Syndrome
Sadanandvalli Retnaswami Chandra1, Mane Maheshkumar Daryappa2, M A Mukheem Mudabbir2
1Neurocentre, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Journal of Pediatric Neurosciences
|December 6, 2017
Summary
Polydactyly, often seen in infants, can indicate underlying neurological or systemic issues. This case highlights the rare Pallister-Hall syndrome, emphasizing the need for comprehensive evaluation of polydactyly.
Area of Science:
- Genetics
- Pediatrics
- Medical Syndromes
Background:
- Polydactyly is a common infant abnormality, but can signify broader health concerns.
- Understanding associations with polydactyly is crucial for pediatricians.
- This report focuses on the rare Pallister-Hall syndrome.
Observation:
- A 10-month-old male infant presented with microcephaly, facial anomalies, and limb abnormalities (polydactyly, syndactyly).
- The infant also exhibited global developmental delay and gastrointestinal issues like vomiting.
- Diagnostic investigations revealed hypothalamic hamartomas.
Findings:
- The patient was diagnosed with Pallister-Hall syndrome, a rare genetic disorder.
- This syndrome is characterized by a mutation in the GLI3 gene on chromosome 7.
- Pallister-Hall syndrome exhibits variable penetrance and expressivity.
Implications:
- This case underscores the importance of thorough investigation for infants with polydactyly.
- Recognizing Pallister-Hall syndrome aids in early diagnosis and management.
- Further research into GLI3 gene mutations and associated phenotypes is warranted.
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