Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge

Clin Dysmorphol. 2021 Jan;30(1):58-61. doi: 10.1097/MCD.0000000000000346.

Authors

Etienne J M Janssen¹, Alexander P A Stegmann², Constance T R M Stumpel²

Affiliations

¹ Departments of Pediatrics.
² Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, the Netherlands.

PMID: 32897902
DOI: 10.1097/MCD.0000000000000346

No abstract available

Publication types

Case Reports

MeSH terms

Alleles
Arthritis / diagnosis*
Arthritis / genetics*
Cataract / diagnosis*
Cataract / genetics*
Collagen Type XI / deficiency*
Collagen Type XI / genetics
Connective Tissue Diseases / diagnosis*
Connective Tissue Diseases / genetics*
Craniofacial Abnormalities / diagnosis*
Craniofacial Abnormalities / genetics*
Diagnosis, Differential
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Variation
Genotype
Hearing Loss, Sensorineural / diagnosis*
Hearing Loss, Sensorineural / genetics*
Humans
Infant
Male
Osteochondrodysplasias / diagnosis*
Osteochondrodysplasias / genetics*
Phenotype
Retinal Detachment / diagnosis*
Retinal Detachment / genetics*

Substances

Collagen Type XI

Supplementary concepts

Marshall syndrome
Stickler syndrome, type 1