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.

Cataract

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.


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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.
9489375
 MALE Child
[A case of Marshall syndrome with secondary glaucoma due to spontaneous rupture of the lens capsule].
Endo S, Hashimoto Y, Ishida N, Kusano Y, Ohkoshi K, Yamaguchi T.
Nippon Ganka Gakkai Zasshi. 1998;102(1):75-9.
He was diagnosed as having Marshall syndrome because of bilateral cataract, high myopia, saddle nose, hypertelorism, and lack of arthropathy.
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.