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Case Reports
. 2014 Jun;62(6):741-3.
doi: 10.4103/0301-4738.136277.

Delleman (oculocerebrocutaneous) syndrome: case report

Tomás Ortiz-Basso  1 , Rodolfo Vigo, Sebastián Iacouzzi, Jorge Prémoli
Affiliations
Case Reports

Delleman (oculocerebrocutaneous) syndrome: case report

Tomás Ortiz-Basso et al. Indian J Ophthalmol. 2014 Jun.

Abstract

Delleman syndrome is an unusual entity, characterized by ocular cysts or microphthalmia, focal dermal anomalies and cerebral malformations. In the following article, we carry out a review of the disease and we present the case of a patient with microphthalmos and palpebral coloboma. As we could not put orbital expanders at an early stage, we performed reconstructive surgery.

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Conflict of interest statement

Conflict of Interest: None declared

Figures

Figure 1
Figure 1
Newborn with Delleman Syndrome
Figure 2
Figure 2
MRI showed an encephalic trunk of dysmorphic aspect
Figure 3
Figure 3
Eyelid reconstruction
Figure 4
Figure 4
Forming the flap
Figure 5
Figure 5
Postoperative
See this image and copyright information in PMC

References

    1. Delleman JW, Oorthuys JW. Orbital cyst in addition to congenital cerebral and focal dermal malformations: A new entity? Clin Genet. 1981;19:191–8. - PubMed
    1. Delleman JW, Oorthuys JW, Bleeker-Wagemakers EM, ter Haar BG, Ferguson JW. Orbital cyst in addition to congenital cerebral and focal dermal malformations: A new entity. Clin Genet. 1984;25:470–2. - PubMed
    1. Saatci AO, Arikan G, Saatci P, Saatci Y, Kavukcu S. Oculocerebrocutaneous syndrome. J Pediatr Ophthalmol Strabismus. 2008;45:181–3. Arora V, Kim UR, Khazei HM Delleman Oorthuys syndrome: ‘Oculocerebrocutaneous syndrome’ Indian J Ophthalmol 2009;57:387-9. - PubMed
    1. Patil SJ, Phadke SR. Delleman syndrome. Indian Pediatr. 2006;43:173–4. - PubMed
    1. Moog U, Jones MC, Bird LM, Dobyns WB. Oculocerebrocutaneous syndrome: The brain malformation defines a core phenotype. J Med Genet. 2005;42:913–21. - PMC - PubMed

Publication types

Supplementary concepts