Marshall Syndrome and a Defect at the COL11A1 Locus

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these syndromes overlap, it has been argued whether they are distinct entities or different manifestations of a single syndrome. Several mutations causing Stickler syndrome have been found in the COL2A1 gen...

Marshall/Stickler syndrome.

[A case of Marshall-Smith syndrome].

Marshall-Smith syndrome (MSS) is a rare clinical disorder, characterized by accelerated skeletal maturation, facial anomalies, failure to thrive and death in early infancy due to respiratory complications. We experienced the difficult airway case with MSS. A 4-year-old boy underwent tenosynovectomy for the snapping finger. Although his upper airway was diagnosed as almost normal on the fiber-op...

Marshall syndrome – a challenge in medical practice

Marshall-Smith syndrome: a distinct entity.