To the Editor:Adams-Oliver syndrome (AOS,including 6 types) was initially reported in a three-generation family by Adams and Oliver in 1945,[1] with an estimated incidence of 1 in 225,000 live births.[2] Approximately...To the Editor:Adams-Oliver syndrome (AOS,including 6 types) was initially reported in a three-generation family by Adams and Oliver in 1945,[1] with an estimated incidence of 1 in 225,000 live births.[2] Approximately 84% of AOS patients have terminal transverse limb defects,including amputations,syndactyly,brachydactyly,or oligodactyly.展开更多
Fetal hydrops is a rare but serious fetal developmental abnormality characterized by the abnormal accumulation of large amounts of fluid in the fetus resulting in generalized edema,and clinically manifested by abnorma...Fetal hydrops is a rare but serious fetal developmental abnormality characterized by the abnormal accumulation of large amounts of fluid in the fetus resulting in generalized edema,and clinically manifested by abnormal functioning of multiple organs and systems.1 The ryanodine receptor 1(RYR1)gene encodes the ryanodine receptor found in skeletal muscle and is expressed predominantly in cardiac and skeletal muscle.展开更多
文摘To the Editor:Adams-Oliver syndrome (AOS,including 6 types) was initially reported in a three-generation family by Adams and Oliver in 1945,[1] with an estimated incidence of 1 in 225,000 live births.[2] Approximately 84% of AOS patients have terminal transverse limb defects,including amputations,syndactyly,brachydactyly,or oligodactyly.
基金funded by the Guangxi Science and Technology Department (China) (No.Guike AD23026025).
文摘Fetal hydrops is a rare but serious fetal developmental abnormality characterized by the abnormal accumulation of large amounts of fluid in the fetus resulting in generalized edema,and clinically manifested by abnormal functioning of multiple organs and systems.1 The ryanodine receptor 1(RYR1)gene encodes the ryanodine receptor found in skeletal muscle and is expressed predominantly in cardiac and skeletal muscle.
