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Delleman syndrome: a case report and review
1St John Ophthalmic Hospital, Jerusalem.
The British Journal of Ophthalmology
|February 1, 1992
Summary
This case report details the first documented instance of oculocerebrocutaneous syndrome in West Bank and Gaza. The study highlights the syndrome
Area of Science:
- Ophthalmology
- Neurology
- Medical Genetics
Background:
- Oculocerebrocutaneous syndrome is a rare congenital disorder.
- Previous cases have been reported globally, but none from West Bank and Gaza.
Observation:
- A case of oculocerebrocutaneous syndrome in a child with consanguinous parents is presented.
- Clinical features include orbital cyst, periorbital cutaneous malformations, and cerebral malformations.
Findings:
- This represents the first reported case of oculocerebrocutaneous syndrome in West Bank and Gaza.
- Detailed description of the syndrome's ocular, cerebral, and cutaneous manifestations.
Implications:
- Emphasizes the need for increased awareness and diagnosis of this rare syndrome.
- Highlights the importance of neurological follow-up for affected individuals.
- Contributes to the understanding of oculocerebrocutaneous syndrome prevalence and presentation in a new geographical region.