Cyclopia-otocephaly association: a new case of the most severe variant of agnathia-holoprosencephaly complex.
This report describes a new case of true cyclopia with otocephaly and additional brain malformations (alobar holoprosencephaly). This is a very rare occurrence involving lack of cleavage of the prosencephalon and disturbed development of the first branchial arch. An inductive defect of the prechordal mesoderm is considered as the cause for this malformation, which is a part of agnathia-holoprosencephaly complex.
D000015:Abnormalities, Multiple / Q000196:embryology / Q000473:pathology*; D001921:Brain / Q000002:abnormalities* / Q000196:embryology; D004423:Ear / Q000002:abnormalities / Q000196:embryology; D005123:Eye / Q000196:embryology; D005124:Eye Abnormalities; D005145:Face / Q000002:abnormalities* / Q000196:embryology; D006801:Humans; D007231:Infant, Newborn; D007569:Jaw Abnormalities / Q000196:embryology; D008297:Male