Stickler Syndrome

Stickler syndrome is an autosomal dominant hereditary progressive arthro-ophthalmology condition characterized by congenital abnormalities of the eye, micrognathia, and a cleft palate. Other clinical features include flat midface, intracranial calcifications, and deafness. More than 50% of patients affected with this condition have a mitral valve prolapse and authors have suggested that in the presence of an autosomal dominant inherited mitral valve prolapse, a Stickler syndrome should be suspected until proven otherwise.

There are three types of Stickler syndrome:

Stickler syndrome type I (Stickler Syndrome Vitreous type I; Stickler Syndrome Membranous Vitreous Type; Progressive Hereditary Arthro-Ophthalmopathy Syndrome) is characterized by progressive myopia with an onset of age within the first 10 years, resulting in retinal detachment and blindness. Individuals affected with this type also present premature degenerative changes in various joints with abnormal epiphyseal development and slight hypermobility.

Stickler Syndrome type II (Stickler Syndrome Vitreous type II; Beaded Vitreous Stickler Syndrome type II) is characterized by the usual clinical characteristic of ocular, auditory, and orofacial features seen in Stickler syndrome but with the architecture of an abnormal vitreous. This sign is a hallmark of this syndrome and is a prerequisite for the diagnosis.

Stickler Syndrome type III (Stickler Syndrome Monocular type) is characterized by the usual features of Stickler Syndrome, however, the ocular signs observed with the other types (high myopia, vitreoretinal degeneration, and retinal detachment) are absent.

Autosomal dominant.

Evocated by myopia in the first years of life.

Eye findings: high myopia, congenital but deteriorating in the first years of life. Total, sudden retinal detachment associated with no trauma in first decade of life. Dense, complicated cataract formation, uveitis keratopathy, and secondary glaucoma developing after retinal detachment. Joint manifestations: bony enlargement of joints at birth, especially ankles, knees, and elbows. Soreness of joints in early childhood. Progressive arthritis in early adult life. Joints mostly wrists, elbows, knees, hips, and ankles. Hypermobility of joints, particularly fingers. Pierre Robin syndrome and sensorineural deafness associated in 10% of cases.

Although neck involvement in the arthropathy is not typical, it would be prudent to carefully examine neck movements to anticipate problems during direct laryngoscopy and tracheal intubation. A careful history reveals positions in which the patient is uncomfortable and consideration should be given to this when positioning the patient for surgery.

It may be feasible for the patient to position himself for surgery to prevent damage to arthritic joints. Regional techniques may well be appropriate in this group of patients. Intellectual function is normal, although blindness is common. There are no specific recommendations for the conduct of anesthesia.

Avoid succinylcholine and other drugs that may increase intraocular pressure in the presence of glaucoma. No other specific indications or contraindications exist for anesthetic agents.

Marshall Syndrome: This autosomal dominant inherited disorder is characterized by cataracts, myopia, abnormal vitreous, ...

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