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Reumatologia Clinica 2016
Topics: Anti-Inflammatory Agents; Cataract; Child, Preschool; Cholecalciferol; Collagen Type XI; Craniofacial Abnormalities; Disease Progression; Drug Therapy, Combination; Female; Hearing Loss, Sensorineural; Humans; Osteochondrodysplasias; Prednisolone; Severity of Illness Index; Vitamin D Deficiency; Vitamins
PubMed: 26746599
DOI: 10.1016/j.reuma.2015.11.006 -
La Tunisie Medicale Mar 2015Marshall syndrome is a rare autosomal dominant skeletal dysplasia. It associates a particular facial dysmorphism with midface hypoplasia, ocular abnormalities and...
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 Marshall syndrome in a Tunisian family with a linkage study of the COL11A1 gene to this disease.
METHODS
We report the clinical and the radiological findings of a Tunisian family including 8 members affected by Marshall syndrome. The linkage of the COL11A1 gene to this disease was tested using the polymorphic microsatellite markers of DNA.
RESULTS
A variability of the clinical expression of Marshall syndrome was reported. Specific Marshall phenotype and an overlapping phenotype between the Marshall and Stickler syndromes were observed among the affected members of this family. The ocular manifestations were also heterogeneous. Marshall syndrome's specific radiological signs were found. The linkage study supports the linkage of the abnormal phenotype to the COL11A1 gene.
CONCLUSION
There is a variability of the clinical expression among the affected members of the study's family. We will continue searching the causative mutation to establish a clear genotype- phenotype correlation.
Topics: Adult; Aged; Cataract; Child, Preschool; Collagen Type XI; Craniofacial Abnormalities; Female; Hearing Loss, Sensorineural; Humans; Infant, Newborn; Male; Mutation; Osteochondrodysplasias; Pedigree; Tunisia; Young Adult
PubMed: 26367406
DOI: No ID Found -
Pediatric Dermatology 2015Neutrophilic dermatoses (NDs) are inflammatory skin conditions that are not associated with infection. The classification and clinical approach to these conditions in... (Review)
Review
Neutrophilic dermatoses (NDs) are inflammatory skin conditions that are not associated with infection. The classification and clinical approach to these conditions in children is poorly described. This review classifies these conditions into five nosological subtypes: Sweet's syndrome, pyoderma gangrenosum, aseptic pustules, neutrophilic urticarial dermatoses, and Marshall's syndrome. In addition, we review the various secondary diseases that need to be excluded in the clinical management of the NDs of childhood, with a focus on the autoinflammatory conditions that the reader may not be familiar with. We propose a practical clinical approach to these disorders.
Topics: Abscess; Cataract; Child; Collagen Type XI; Craniofacial Abnormalities; Diagnosis, Differential; Hearing Loss, Sensorineural; Humans; Neutrophil Infiltration; Osteochondrodysplasias; Pyoderma Gangrenosum; Skin Diseases; Sweet Syndrome; Urticaria
PubMed: 25727235
DOI: 10.1111/pde.12502 -
International Journal of Dermatology Jun 2015
Review
Topics: Cataract; Collagen Type XI; Craniofacial Abnormalities; Hearing Loss, Sensorineural; Humans; Male; Osteochondrodysplasias; Phenotype; Young Adult
PubMed: 25208889
DOI: 10.1111/ijd.12471 -
American Journal of Medical Genetics.... Oct 2014Marshall syndrome and type II Stickler syndrome are caused by mutations in COL11A1, which codes for the proα1chain of collagen XI. Collagen XI is a minor fibrillar...
Marshall syndrome and type II Stickler syndrome are caused by mutations in COL11A1, which codes for the proα1chain of collagen XI. Collagen XI is a minor fibrillar collagen co-expressed with collagen II in cartilage and the vitreous of the eye. Characteristic features of Marshall syndrome include midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Deletions, insertions, splice site, and missense mutations in COL11A1 have been identified in Stickler syndrome and Marshall syndrome patients. In this study, we describe the clinical presentations of seven patients with Marshall syndrome from three unrelated Saudi families, inherited as autosomal dominant (two families) and autosomal recessive (one family). Cardinal clinical features of Marshall syndrome are manifested in all patients. One patient had ectodermal abnormalities. Mutations (c.2702G > A in exon 34,IVS50 + 1G > A, and IVS50 + lG > C) were identified in COL11A1 in affected members. Interestingly, the first report of autosomal recessive Marshall syndrome was from Saudi Arabia caused by the same mutation (c.2702G > A, p.Gly901Glu) as in one of our families. This study depicts detailed phenotypic and genetic description of dominant and recessive forms of Marshall syndrome due to COL11A1 mutations.
Topics: Adolescent; Adult; Cataract; Child; Collagen Type XI; Craniofacial Abnormalities; Exons; Female; Hearing Loss, Sensorineural; Humans; Infant; Male; Middle Aged; Mutation; Osteochondrodysplasias; Pedigree; Phenotype; Saudi Arabia; Young Adult
PubMed: 25073711
DOI: 10.1002/ajmg.a.36681