Another case of Ritscher-Schinzel-syndrome: craniocerebello-cardiac dysplasia (3C-syndrome) with associated bilateral colobomata.
Wörle
H
H
Lewin
M A
MA
Holder
M
M
Bastanier
C K
CK
Köhler
B
B
D000015:Abnormalities, Multiple; D002531:Cerebellum / Q000002:abnormalities*; D002675:Child, Preschool; D003103:Coloboma / Q000473:pathology; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006345:Heart Septal Defects, Ventricular; D006801:Humans; D007498:Iris / Q000002:abnormalities; D013577:Syndrome