Interpretation of some median anomalies as illustrated by cyclopia and symmelia.
Anomalies that involve the median plane are heterogeneous, and their embryological basis varies widely. Cyclopia and symmelia present a number of similarities: 1) They would appear to arise by neither fusion nor merging but mainly through a failure in lateralization. 2) Mesenchymal deficiency is important in both: possibly disturbance of the prechordal plate in cyclopia and failure of the caudal eminence in symmelia. The caudal eminence is an important developmental feature that is only recently becoming clearer in the human embryo. 3) Disturbance of axial material seems to be essential in both. 4) The results of experimental teratogenesis and an analysis of normal human development confirm that these conditions arise early. The teratogenetic termination-periods in the human are probably 2 1/2 weeks for cyclopia sensu stricto (a median eye in a single orbit) and 3 weeks for cyclopia sensu lato, i.e., synophthalmia (paired ocular structures in a single orbit); 2 1/2 weeks for symmelia of the upper limbs (e.g., in cephalothoracopagus) and 3 1/2 weeks for symmelia of the lower limbs in a single individual. It is pointed out that in symmelia the limb buds, upper or lower, have failed to separate at their postaxial margins. This is in contrast to dimelia, in which the preaxial borders are missing and the postaxial margins are duplicated (postaxial dominance).
O'Rahilly
R
R
Carnegie Laboratories of Embryology, California Primate Research Center, Davis 95616.
Müller
F
F
D006801:Humans; D017880:Limb Deformities, Congenital; D009915:Orbit / Q000196:embryology*; D013131:Spine / Q000002:abnormalities; D014275:Trigeminal Caudal Nucleus / Q000196:embryology; D014428:Twins, Conjoined / Q000196:embryology