Major central nervous system malformation in "micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects".
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000000981:diagnostic imaging; D002490:Central Nervous System / Q000002:abnormalities*; D002675:Child, Preschool; D004392:Dwarfism / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D011859:Radiography