Abstract
We resent, a family manifesting a variation of the syndrome of ectrodactyly with tibial aplasia. The principal case in the family showed the most severe bilateral skeletal malformations of this syndrome. The hand changes of this case (tetra-oligodactyly with missing 5th rays) and of a relative (oligodactyly with the last 3 rays being affected) reflected a variable manifestation of “ectrodactyly”. Additionally, a review of the relevant literature is presented for further delineation of various aspects of this syndrome.
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Sener, R.N., Sayli, B.S., Isikan, U.E. et al. Tetra-oligodactyly with bilateral aplasia and hypoplasia of long bones of upper and lower limbs: A variable manifestation of the syndrome of ectrodactyly with tibial aplasia. Pediatr Radiol 21, 57–61 (1990). https://doi.org/10.1007/BF02010817
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DOI: https://doi.org/10.1007/BF02010817