Otospondylomegaepiphyseal dysplasia (OSMED) is a very rare disorder due to mutations of type XI collagen. It could be either of autosomal dominant or recessive etiology. OSMED is characterized by typical facial features, short extremities, enlarged thick epiphyses and abnormalities in vertebral bodies, and non-progressive sensorineural hearing loss.
Temtamy SA, Mannikko M, Abdel-Salam GM, Hassan NA, Ala-Kokko L, Afifi HH
タイトル
Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.
Pihlajamaa T, Prockop DJ, Faber J, Winterpacht A, Zabel B, Giedion A, Wiesbauer P, Spranger J, Ala-Kokko L
タイトル
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymuller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).
