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Article

[Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family].

La Tunisie medicale - 1 Mar 2015

Sakka Rania, Kerkeni Emna, Chaabouni Myriam, Chioukh Fatma Zohra, Ben Amor Sofiène, M'rad Ridha, Ben Yahia Salim, Chaabouni Habiba, Monastiri Kamel

Abstract excerpt

BACKGROUND: Marshall syndrome is a rare autosomal dominant skeletal dysplasia. It associates a particular facial dysmorphism with midface hypoplasia, ocular abnormalities and sensorineural hearing loss. It is caused by heterozygous mutations in COL11A1 gene coding the 1 chain of collagen XI. Stickler syndrome is the principal differential diagnosis of Marshall syndrome. AIM: Clinical and radiological study of...

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PMID: 26367406

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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[Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family].PMID 26367406Read ↗

Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.Semantic proximity Read ↗

Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrumSemantic proximity Read ↗

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.Semantic proximity Read ↗

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.Semantic proximity Read ↗

Marshall syndrome.Semantic proximity Read ↗

Marshall syndrome associated with a splicing defect at the COL11A1 locus.Semantic proximity Read ↗

[Osteochondrodysplasia determined genetically by a collagen type II gene mutation].Semantic proximity Read ↗

A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.Semantic proximity Read ↗

A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.Semantic proximity Read ↗

[Genetic and ophthalmological assessment of patients with type II Stickler syndrome].Semantic proximity Read ↗

[Marshall syndrome--case report].Semantic proximity Read ↗

Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case.Semantic proximity Read ↗

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