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Unusual ocular findings in an infant with cri-du-chat syndrome
Insights
This report details a newborn with cri-du-chat syndrome and previously undescribed microspherophakia. Congenital cataracts were inherited, but unrelated to the chromosomal abnormality.
Area of Science:
- Genetics
- Ophthalmology
- Pediatrics
Background:
- Cri-du-chat syndrome is a genetic disorder caused by a deletion on the short arm of chromosome 5.
- Congenital cataracts are clouding of the lens present at birth.
- Microspherophakia is a rare condition characterized by small, rounded lenses.
Observation:
- A newborn male presented with cri-du-chat syndrome, congenital nuclear cataracts, and microspherophakia.
- The patient also had probable ectopic lenses.
- Congenital cataracts were inherited from the mother, who had a balanced 5;13 translocation.
Findings:
- Microspherophakia is described for the first time in a patient with cri-du-chat syndrome.
- The congenital cataracts were determined to be coincidental and not directly caused by a 'position effect' related to the translocation.
- This represents the fourth reported instance of familial cri-du-chat syndrome involving chromosomes 5p and 13q.
Implications:
- This case expands the known ocular manifestations associated with cri-du-chat syndrome.
- Highlights the importance of comprehensive ophthalmological evaluation in newborns with genetic syndromes.
- Further research may elucidate potential genetic or developmental links between these conditions.
Abstract:
A newborn male with cri-du-chat syndrome, congenital nuclear cataracts, microspherophakia, and probably ectopic lenses is reported. Microspherophakia in cri-du-chat syndrome has not been previously described. The congenital cataracts were inherited from his mother who had a balanced 5;13 translocation; the two events are considered to be coincidental and a possible 'position effect' was excluded, since the other members of her family with congenital cataracts, were chromosomally normal. This is the fourth case reported where familial cri-du-chat syndrome involves chromosomes 5p and 13q.