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.

Myopia

An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.


合計: 2

                       


（表示件数）
PMID (PMCID)
10889003
 MIXED_SAMPLE
Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome.
Griffith AJ, Gebarski SS, Shepard NT, Kileny PR.
Arch Otolaryngol Head Neck Surg. 2000;126(7):891-4.
Marshall syndrome is a dominant disorder characterized by craniofacial and skeletal abnormalities, sensorineural hearing loss, myopia, and cataracts, and is associated with splicing mutations in COL11A1.
30650974
 MIXED_SAMPLE Infant
Marshall and stickler syndrome in one family.
Tomikova D, Buanyova B, Krasnik V, Gerinec A.
Cesk Slov Oftalmol. 0000;74(3):108-111.
Key words: Marshall syndrome, Stickler syndrome, mid-facial dysmorfism, myopia, glaucoma, cataract.