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Kaufman oculocerebrofacial syndrome: case report
American Journal of Medical Genetics
|January 1, 1979
Summary
Oculocerebrofacial syndrome, initially reported in siblings, is further evidenced in a 12-year-old child. This finding suggests the syndrome is not a rare "private" condition, expanding its known occurrence.
Area of Science:
- Genetics
- Pediatrics
- Dysmorphology
Background:
- Oculocerebrofacial syndrome (OCFS) was first described by Kaufman in 1971.
- The initial description was based on affected siblings of both sexes.
Observation:
- A case study of a 12-year-old child presenting with malformations consistent with OCFS is detailed.
- The patient exhibited a constellation of features aligning with the original syndrome description.
Findings:
- The presence of a similar case strengthens the recognition of Oculocerebrofacial syndrome.
- This case indicates that OCFS may occur more broadly than initially suggested by the original report.
Implications:
- The findings challenge the notion of OCFS as a "private" or extremely rare syndrome.
- Further research into the prevalence and genetic basis of Oculocerebrofacial syndrome is warranted.