A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia.
Imamura
Y
Y
Department of Pediatrics, Nagasaki University School of Medicine, Nagasaki City, Japan.
Kondoh
T
T
Kamei
T
T
Tsuru
A
A
Shimasaki
Y
Y
Kinoshita
E
E
Matsumoto
T
T
Moriuchi
H
H
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000130:Achondroplasia / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D003402:Creatine Kinase / Q000097:blood; D002658:Developmental Disabilities; D005260:Female; D006801:Humans; D007223:Infant; D016133:Polymerase Chain Reaction; D011859:Radiography; D012131:Respiratory Insufficiency
D003402:Creatine Kinase