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  • Title: The radiological diagnosis of the fetal-face (= Robinow) syndrome (mesomelic dwarfism and small genitalia). Report of 3 cases.
    Author: Giedion A, Battaglia GF, Bellini F, Fanconi G.
    Journal: Helv Paediatr Acta; 1976 Jan; 30(4-5):409-23. PubMed ID: 1245439.
    Abstract:
    Report of 3 cases with Robinow syndrome. Analysis of the X-ray findings, including the formerly reported cases. On radiological grounds, the diagnosis of the Robinow syndrome is possible by the combined observation of mesomelic shortening of the extremities, hemivertebra formation and fusion anomalies of spine and of the ribs. The "splitting" of terminal (bifid) phalanges and toes is a facultative, but highly diagnostic radiological sign. In 2 cases, the pattern profiles were of considerable similarity. The practical importance of the correct diagnosis in this syndrome is emphasized.
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