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Stickler syndrome.

J T Bennett¹, S W McMurray

¹Tulane University School of Medicine, Department of Orthopaedics, New Orleans, LA 70112.

Journal of Pediatric Orthopedics

|November 1, 1990

Summary

This summary is machine-generated.

Stickler syndrome is a genetic connective tissue disorder causing skeletal, facial, and eye issues. Key signs include coxa valga and acetabular protrusio, often leading to early arthritis.

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Area of Science:

Genetics
Orthopedics
Ophthalmology

Background:

Stickler syndrome is an autosomal-dominant connective tissue disorder.
It presents with a range of skeletal, orofacial, and ocular abnormalities.

Observation:

Common roentgenographic findings include coxa valga and widened femoral necks.
Other skeletal manifestations can include acetabular protrusio, chondrolysis, avascular necrosis, and vertebral changes.
Nonskeletal findings frequently involve congenital myopia and micrognathia.

Findings:

Premature arthritic changes are a common expectation in affected individuals.
The syndrome is characterized by a spectrum of connective tissue abnormalities affecting multiple systems.

Implications:

Related Experiment Videos

Consider Stickler syndrome in patients with unexplained coxa valga, particularly when acetabular protrusio is also present.
Early recognition aids in managing skeletal complications and associated ocular and orofacial features.