Marshall-Stickler phenotype associated with von Willebrand disease.
We report on 6 individuals from three different kindreds with Marshall-Stickler (MS) phenotype, with characteristic orofacial abnormalities, arthropathy, deafness, and eye findings, all of whom were discovered to have a mild bleeding diathesis and coagulation-study findings consistent with mild von Willebrand disease (vWD). MS syndrome has been linked in some cases to the type II procollagen gene (COL2A1) on chromosome 12q, and to the collagen XI gene (COL11A2) on chromosome 6. The von Willebrand factor (vWF) is encoded by a 180-Kb gene located on the short arm of chromosome 12. This is the first reported association of these two disorders.
MacDonald
M R
MR
Meyer Rehabilitation Institute, University of Nebraska Medical Center, Omaha 68198-5440, USA.
Baker
K S
KS
Schaefer
G B
GB
D000293:Adolescent; D000328:Adult; D002881:Chromosomes, Human, Pair 12; D002896:Chromosomes, Human, Pair 6; D003094:Collagen / Q000235:genetics; D003238:Connective Tissue / Q000002:abnormalities*; D003240:Connective Tissue Diseases / Q000150:complications* / Q000175:diagnosis*; D003638:Deafness / Q000175:diagnosis; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D008297:Male; D009056:Mouth Abnormalities / Q000150:complications / Q000175:diagnosis; D010375:Pedigree; D013577:Syndrome; D014842:von Willebrand Diseases / Q000150:complications* / Q000175:diagnosis*
D003094:Collagen