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Article

The arthropathy of hereditary arthroophthalmopathy (Stickler syndrome).

The Journal of rheumatology - 1 Aug 1992

Lewkonia R M

Abstract excerpt

Hereditary arthroophthalmopathy (Stickler syndrome) is an autosomal dominant syndrome characterized by musculoskeletal, ophthalmic and dysmorphic facial features. A family is described illustrating diverse expressions of Stickler syndrome, including abnormalities not directly attributable to muta...

Topics

Abnormalities, Multiple
Adolescent
Adult
Eye Diseases
Facial Bones
Female
Humans
Joint Diseases
Male
Musculoskeletal Diseases
Mutation
Pedigree
Procollagen

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Skull

Syndrome

Source

Identifiers

PMID: 1404165

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1404165-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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The arthropathy of hereditary arthroophthalmopathy (Stickler syndrome).PMID 1404165Read ↗

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Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis.Semantic proximity Read ↗

Stickler syndrome: an underdiagnosed disease. Report of a family.Semantic proximity Read ↗

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Retinal Detachment in Type IX collagen recessive Stickler syndromeSemantic proximity Read ↗

Retinal detachment in Type IX collagen recessive Stickler syndrome.Semantic proximity Read ↗

Prenatal diagnosis of Pierre–Robin sequence as part of Stickler syndromeSemantic proximity Read ↗

COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes.Semantic proximity Read ↗

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