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.
Megarbane
A
A
Tamraz
J
J
Haddad
S
S
D001921:Brain / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008279:Magnetic Resonance Imaging; D008297:Male; D011859:Radiography; D013116:Spinal Cord / Q000000981:diagnostic imaging