[An unusual polymalformation syndrome: "CHARGE association" with unilateral "morning glory syndrome"].
Report of a case of the "CHARGE association" including bilateral papillary coloboma, with an aspect of "morning glory syndrome" on one side. Clinical features of the "CHARGE association" are described; pathogenesis is likely involving cells of neural crests. Discussion, in this field, of the ocular and systemic abnormalities associated with "morning glory syndrome".
Risse
J F
JF
Guillaume
J B
JB
Boissonnot
M
M
Bonneau
D
D
D000015:Abnormalities, Multiple / Q000196:embryology / Q000235:genetics / Q000473:pathology*; D000328:Adult; D002754:Choanal Atresia / Q000196:embryology / Q000235:genetics / Q000473:pathology*; D003103:Coloboma / Q000196:embryology / Q000235:genetics / Q000473:pathology*; D006330:Heart Defects, Congenital / Q000196:embryology / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008297:Male; D009898:Optic Disk / Q000002:abnormalities*
Un syndrome polymalformatif inhabituel: l'"association CHARGE" à un "morning glory syndrome" unilatéral.