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Congenital glaucoma associated with 22p+ variant in a dysmorphic child
Anil K Mandal1, K Prabhakara, Aramati B M Reddy
1Jasti V Ramanamma Children's Eye Care Centre, Hyderabad, India. mandal@lvpei.org
Indian Journal of Ophthalmology
|January 31, 2004
Summary
This case report details a child with congenital glaucoma, developmental delay, and dysmorphic features associated with a 22p+ chromosomal variant. This highlights a rare genetic condition impacting multiple developmental pathways.
Area of Science:
- Genetics
- Ophthalmology
- Developmental Pediatrics
Background:
- Congenital glaucoma is a rare condition requiring early diagnosis and management.
- Developmental delay and dysmorphic features can indicate underlying genetic syndromes.
Observation:
- A patient presented with congenital glaucoma, developmental delay, and multiple dysmorphic features.
- Karyotyping revealed a 22p+ chromosomal variant.
Findings:
- The 22p+ chromosomal variant is associated with the observed clinical phenotype.
- This case expands the known spectrum of conditions linked to 22p+ chromosomal abnormalities.
Implications:
- Understanding the genetic basis of congenital glaucoma with developmental delay is crucial for genetic counseling.
- Further research into 22p+ variants may reveal novel genotype-phenotype correlations.