title: [Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family].
abstract: 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.
  
  
  OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.forename: Rania
authors.initials: R
authors.lastname: Sakka
authors.forename: Emna
authors.initials: E
authors.lastname: Kerkeni
authors.forename: Myriam
authors.initials: M
authors.lastname: Chaabouni
authors.forename: Fatma Zohra
authors.initials: FZ
authors.lastname: Chioukh
authors.forename: Sofiène
authors.initials: S
authors.lastname: Ben Amor
authors.forename: Ridha
authors.initials: R
authors.lastname: M'rad
authors.forename: Salim
authors.initials: S
authors.lastname: Ben Yahia
authors.forename: Habiba
authors.initials: H
authors.lastname: Chaabouni
authors.forename: Kamel
authors.initials: K
authors.lastname: Monastiri
mesh_terms: D000328:Adult; D000368:Aged; D002386:Cataract / Q000235:genetics*; D002675:Child, Preschool; D024161:Collagen Type XI / Q000172:deficiency* / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D014416:Tunisia; D055815:Young Adult
chemical_list: C574182:COL11A1 protein, human; D024161:Collagen Type XI