Concurrent Presentation of Euryblepharon and Moyamoya Syndrome in Costello Syndrome: A Rare Clinical Case.

This case report provides a detailed examination of a rare co-occurrence of Costello syndrome, euryblepharon, and Moyamoya syndrome in a 14-year-old female. Costello syndrome, a rare genetic disorder characterized by developmental delays, distinctive facial characteristics, and a predisposition to certain malignancies, presents an array of ocular manifestations, including downward-slanting palpebral fissures. A significant similarity is noted with euryblepharon, a rare periocular anomaly marked by the downward slanting of the eyelids. Despite these striking resemblances, the association between euryblepharon and Costello syndrome is yet to be documented in the literature. Furthermore, the coexistence of Costello syndrome and Moyamoya syndrome, a cerebrovascular disorder, is exceedingly rare. This report provides an in-depth analysis of the patient's ocular and periocular manifestations, establishing a potential association of euryblepharon within the phenotypic spectrum of Costello syndrome and documenting the unusual co-occurrence with Moyamoya syndrome. These findings aim to augment our understanding of Costello syndrome's phenotypic variability and potential associations.

Outcomes of the use of orbital hydrogel expanders in the management of congenital anophthalmia: CT-based orbital parameter analysis.

PURPOSE: To evaluate the outcomes of orbital hydrogel expanders in the management of congenital anophthalmia. METHODS: In this retrospective one-armed cohort study, a chart review was performed of eight children with congenital anophthalmia who underwent orbital expansion using orbital hydrogel tissue expander from January 2006 to July 2018. Computed tomography (CT) of orbital parameters was evaluated before and after surgery. Changes in the orbital parameters were correlated with clinical factors. RESULTS: The study sample comprised 11 anophthalmic orbits of eight children (seven males, one female; median age = 12 months), with a median postoperative follow-up of 3.8 years. The anophthalmic orbital parameters after hydrogel expander implantation improved significantly compared to preoperative assessment as follows: mean orbital height improved from 21.7 mm to 25.4 mm (P < .001); width from 19.2 mm to 23.8 mm (P < .001); depth from 27.5 mm to 32.6 mm (P = .008); and volume from 3.7 cm3 to 5.3 cm3 (P = .001). Despite enlargement in all dimensions, the anophthalmic orbits with hydrogel expander had a significantly lower development than the normal orbits, mainly in height and volume. At the last postoperative visit, four (36.4%) cases had fornices deep enough to maintain the conformer. Migration and extrusion occurred in two (18.2%) cases. CONCLUSIONS: Orbital hydrogel expander can improve the orbital development in congenital anophthalmia. However, the enlargement is not as extensive as that observed in the normal orbit. Orbital expanders associated with external conformers were not sufficient to induce normal growth of lids and fornix.