Summary
An identical pair of twins with the tetraphocomelia-cleft palate syndrome is presented. It is hypothesized that Roberts' syndrome and the pseudothalidomide syndrome, previously reported as separate entities, represent different manifestations of the same autosomal, recessively inherited malformation pattern.
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References
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Hermann, J., Feingold, M., Tuffli, G. A., Opitz, J. M.: A familial dysmorphogenetic syndrome of limb deformities, characteristic facial appearance, and associated anomalies: the “pseudothalidomid” or S−C syndrome. Birth Defects 3, 81–98 (1969)
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Fryns, H., Goddeeris, P., Moerman, F. et al. The tetraphocomelia-cleft palate syndrome in identical twins. Hum Genet 53, 279–281 (1980). https://doi.org/10.1007/BF00273512
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DOI: https://doi.org/10.1007/BF00273512