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방성윤,최규연,박은희,강미경,김미경,이정재,이임순 순천향의학연구소 2005 Journal of Soonchunhyang Medical Science Vol.11 No.1
Short-rib polydactyly syndromes(SRPS) comprise a group of rare, generally lethal skeletal dysplasias. This group is manifested by short-limb short stature, short ribs with thorasic hypoplasia, and polydactyly. This heterogenous group of recessively inherited disorder has distinct imaging findings and ancillary findings on both pre-and postnatal assessments may enable individual cases to be classified into one of four subtypes : SRPS Ⅰ(Saldino-Noonan); SRPS Ⅱ (Majewski); SRPS Ⅲ (Verma-Naumoff); and SRPS Ⅳ (Beemer-Langer)1,2,3). All forms of the SRPS described to date are thought to be inherited in an autosomal recessive manner. There are difficulties in the clssification of these disorders because of the frequent overlap. We experienced one case of recurrent short-rib polydactyly syndrome and presented with review of literature.