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.

Coloboma

A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.


合計: 2

                       


（表示件数）
PMID (PMCID)
9235398
 MIXED_SAMPLE Child
[Lens coloboma and lens dislocation in Stickler (Marshall) syndrome].
Schlote T, Volker M, Knorr M, Thiel HJ.
Klin Monbl Augenheilkd. 1997;210(4):227-8.
Coloboma and subluxation of the lens have to be regarded as possible manifestations of the Stickler (Marshall) syndrome.
9235398
 MIXED_SAMPLE Child
[Lens coloboma and lens dislocation in Stickler (Marshall) syndrome].
Schlote T, Volker M, Knorr M, Thiel HJ.
Klin Monbl Augenheilkd. 1997;210(4):227-8.
This represents the first report of coloboma of the ocular lens as a manifestation of Stickler (Marshall) syndrome.