Schinzel-Giedion syndrome: evidence for a neurodegenerative process.
We report on a case of Schinzel-Giedion syndrome in which serial magnetic resonance (MR) brain-imaging studies demonstrated a progressive neurodegenerative process. These findings in addition to "coarse" facial appearance and skeletal abnormality suggest that a progressive metabolic defect underlies this syndrome. However, results of detailed investigations for metabolic disorder were all normal.
Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom.
A M
AM
Shah
M F
MF
Smith
P D
PD
Griffiths
O W
OW
Quarrell
D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D001921:Brain / Q000000981:diagnostic imaging; D002675:Child, Preschool; D004827:Epilepsy / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D019636:Neurodegenerative Diseases / Q000175:diagnosis / Q000235:genetics*; D011859:Radiography; D013577:Syndrome