Summary
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.
Keywords
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Article info
Publication history
Published online: March 16, 2012
Accepted:
February 14,
2012
Received:
July 12,
2011
Identification
Copyright
© 2012 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Inc. All rights reserved.
