Marshall syndrome

Abstract

We report on a mother and daughter with Marshall syndrome, with the Robin sequence present in the daughter. Results of our efforts to link this syndrome to a defect in type II collagen are reported. We compare and contrast Marshall syndrome with the Stickler syndrome, and propose that enough phenotypic overlap exists to suggest that they are probably allelic expressions of the same locus.

Collagen 11a1 is indirectly activated by lymphocyte enhancer-binding factor 1 (Lef1) and negatively regulates osteoblast maturation

“…Patients with Marshall syndrome exhibit short stature and bony overgrowths on the skull (Stratton et al, 1991;Meisler et al, 1998), suggesting a role for Col11a1 in controlling bone mineralization. Further evidence for this conclusion is apparent in the Cho mice, which exhibit excess mineralization in the long bones (Seegmiller et al, 1971;Li et al, 1995).…”

“…Both syndromes occasionally present with cleft palate and patients frequently develop early osteoarthritis (Olsen, 1995;Snead and Yates, 1999;Rodriguez et al, 2004;Jakkula et al, 2005). Whether Marshall and Stickler syndromes are variants of the same disease or separate syndromes is controversial, but it is apparent that they are very similar and many patients display symptoms of both diseases (Winter et al, 1983;Ayme and Preus, 1984;Stratton et al, 1991;Annunen et al, 1999).…”

A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies

“…There has been a long debate as to whether the Stickler and Marshall syndromes are two separate entities or represent just one phenotypic spectrum [Baraitser, 1982;Winter et al, 1983;Ayme and Preus, 1984;Stratton et al, 1991;Shanske et al, 1997;Annunen et al, 1999]. Some authors have emphasized that patients with Marshall syndrome more often have short stature, early-onset hearing loss and more pronounced maxillary hypoplasia [Griffith et al, 1998;Annunen et al, 1999;Griffith et al, 2000;Poulson et al, 2004].…”

The Marshall syndrome: Report of a new family and review of the literature

“…Since publication of Marshall's articles, only seven additional families have been described [Ruppert et al, 1970;Keith et al, 1972;Zellweger et al, 1974;O'Donnell et al, 1976;Winter et al, 1983;Nguyen et al, 1988;and Stratton et al, 1991], and the phenotype has been expanded to include: short stature; flat or retruded midface with short, depressed nose, flat nasal bridge and anteverted nares; cleft palate with or without the Pierre Robin sequence; appearance of large eyes with ocular hypertelorism; cataracts, either congenital or juvenile; esotropia; high myopia; sensorineural hearing loss; spondyloepiphyseal abnormalities; calcification of the falx cerebri; ectodermal dysplasia; and autosomal dominant inheritance. The sparsity of additional reports suggests that Marshall syndrome (MS) is a rare disorder.…”

“…Because MS and SS are similar, it was suggested by Cohen in 1974 that these two entities may actually be variable expressions of the same disorder. In the years since Cohen's letter, a debate has occurred between those who think that MS and SS represent the same entity [Baraitser, 1982;Winter et al, 1983] and those who believe that MS and SS are two discrete syndromes [Zellweger, 1975;O'Donnell et al, 1976;Ayme and Preus, 1984;Stratton et al, 1991].…”