Tetraamelia associated with a syrinx: fortuitous association or clue?

We report a male infant born at 43 weeks of gestation with tetraamelia. The upper limbs consisted of the presence of very short stumps containing a single bone. The lower limbs were totally absent. There were also a facial hemangioma, mild micrognathia, testis ectopia and osseous malformations. A magnetic resonance imaging exam showed no significant abnormality of the brain but disclosed a cervico-dorso-lumbar syringomyelic cord without any other associated spinal malformation. Teratogenic as well as genetic causes are discussed.