Marshall syndrome.
We report on a mother and daughter with Marshall syndrome, with the Robin sequence present in the daughter. Results of our efforts to link this syndrome to a defect in type II collagen are reported. We compare and contrast Marshall syndrome with the Stickler syndrome, and propose that enough phenotypic overlap exists to suggest that they are probably allelic expressions of the same locus.
Stratton
R F
RF
Department of Pediatrics, Wilford Hall United States Air Force Medical Center, Lackland Air Force Base, Texas.
Lee
B
B
Ramirez
F
F
D000015:Abnormalities, Multiple / Q000235:genetics*; D003094:Collagen / Q000235:genetics*; D003638:Deafness; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010641:Phenotype; D010855:Pierre Robin Syndrome / Q000235:genetics*; D006831:Polyhydramnios; D012162:Retinal Degeneration; D013577:Syndrome
D003094:Collagen