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Marshall/Stickler syndrome

MedGen UID:
864402
•Concept ID:
C4015965
•
Finding
Synonym: MARSHALL/STICKLER SYNDROME
 
OMIM®: 120280

Recent clinical studies

Diagnosis

Congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype.
Imamoglu S, Kaya V, Imamoglu EY, Gok K
Indian J Ophthalmol 2016 Nov;64(11):856-859. doi: 10.4103/0301-4738.195615. PMID: 27958215Free PMC Article
Retinal capillary hemangioma in Marshall-Stickler syndrome.
Shields JA, Shields CL, Deglin E
Am J Ophthalmol 1997 Jul;124(1):120-2. doi: 10.1016/s0002-9394(14)71662-9. PMID: 9222251

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