RESUMEN
Background: Orbital fractures are a common presentation to acute care and carry an associated risk of ocular injury, however, previous research has not investigated injury rates by fracture category. These patients are frequently assessed by non-ophthalmic clinicians, however, limited data exists regarding referral patterns and how this impacts recorded injury rates (1-3). Methods: We performed a retrospective review of all orbital fractures presenting to a tertiary hospital in Christchurch, New Zealand between March 2019 and March 2021. Data including mechanism of injury, fracture type, demographic characteristics, and associated ocular injury were recorded. Results: 284 patients with orbital fractures were identified. 41% of patients had isolated wall fractures, while 59% had complex orbitofacial fractures. Fractures were more common in males, and occurred more frequently in young individuals. The most common mechanism of injury was interpersonal violence (32%), followed by falls (23%). 41% of patients were reviewed by ophthalmology (n = 118). Of those, 33% had an associated ocular injury. Severe ocular injury (defined as vision threatening, requiring globe surgery or acute lateral canthotomy and cantholysis) occurred in 4.9% of those with formal ophthalmic review. 0.7% of patients required intraocular surgery or lateral canthotomy due to their orbital fracture. Conclusion: Orbital fractures have a high rate of concurrent ocular injury in our study population, though rates of subsequent intraocular surgery are low. There was no significant difference in injury rates between isolated and complex fracture categories. Vision-threatening ocular injury occurred in 4.9% of fractures.
RESUMEN
SUMMARY: Cantu syndrome, or hypertrichotic osteochondrodysplasia, is a rare, autosomal dominant genetically heterogeneous disorder. It is characterized by hypertrichosis, cardiac and skeletal anomalies and distinctive coarse facial features. We report a case where slowed growth velocity at 13 years led to identification of multiple pituitary hormone deficiencies. This adds to other reports of pituitary abnormalities in this condition and supports inclusion of endocrine monitoring in the clinical surveillance of patients with Cantu syndrome. LEARNING POINTS: Cantu syndrome is a rare genetic disorder caused by pathogenic variants in the ABCC9 and KCNJ8 genes, which result in gain of function of the SUR2 or Kir6.1 subunits of widely expressed KATP channels. The main manifestations of the syndrome are varied, but most commonly include hypertrichosis, macrosomia, macrocephaly, coarse 'acromegaloid' facies, and a range of cardiac defects. Anterior pituitary dysfunction may be implicated in this disorder, and we propose that routine screening should be included in the clinical and biochemical surveillance of patients with Cantu syndrome.