Importance of early diagnosis of Stickler syndrome in newborns

Abstract

Objective: The study aims to investigate a possible correlation between the main clinical and ophthalmological characteristics, age and Robin sequence in patients with the Stickler syndrome.

Introduction: The Stickler syndrome is an autosomal dominant genetic disorder, characterised by ocular, orofacial and skeletal anomalies and/or auditory loss. Patients with Robin sequence features and respiratory complications are frequently diagnosed with the Stickler syndrome. The heterogeneous phenotypic manifestations may present a challenge for early clinical diagnosis.

Methods: We performed a retrospective study of the 98 patients with the Stickler syndrome, between November 1995 and June 2009. The data were compared to investigate their ocular alterations and association with the Robin sequence. To be included, patients had to present with the following triad: cleft palate, facial features (hypoplastic midface, micrognathia and prominent eyes) and ocular anomalies (myopia and/or abnormalities of the retina).

Results: Fifty-one percent of the patients presenting with Robin sequence features had been diagnosed with the Stickler syndrome. Ocular alterations were found in 50% of the patients.

Discussion: The Robin sequence may appear as an isolated condition or associated with other features, or else as part of other known syndromes. Currently, the diagnosis of the Stickler syndrome is based on clinical signs. Affected individuals eventually develop hearing loss, retinal detachment and blindness. The ophthalmological complications associated are usually progressive and can lead to blindness.

Conclusion: Robin sequence may be an indicative sign of the Stickler syndrome. Early diagnosis is essential for specialised treatment, which is critical for preventing irreversible consequences of this pathology.