Marshall syndrome

A malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Skeletal dysplasia

A general term describing features characterized by abnormal development of bones and connective tissues.


合計: 3

                       


（表示件数）
PMID (PMCID)
25091507
 FEMALE
A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.
Hufnagel SB, Weaver KN, Hufnagel RB, Bader PI, Schorry EK, Hopkin RJ.
Am J Med Genet A. 2014;164A(10):2607-12.
The most common type XI collagenopathies are dominantly inherited Stickler or Marshall syndromes, while severe recessive skeletal dysplasias, such as fibrochondrogenesis, occur less frequently.
4014313
 MIXED_SAMPLE Infant
Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome.
Miny P, Lenz W.
Am J Med Genet. 1985;21(2):317-24.
This observation provides further evidence for a distinct autosomal recessive condition with the facial appearance of Marshall syndrome, deafness, and skeletal dysplasia.
4014313
 MIXED_SAMPLE Infant
Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome.
Miny P, Lenz W.
Am J Med Genet. 1985;21(2):317-24.
Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome.