Literature DB >> 1245439

The radiological diagnosis of the fetal-face (= Robinow) syndrome (mesomelic dwarfism and small genitalia). Report of 3 cases.

A Giedion, G F Battaglia, F Bellini, G Fanconi.   

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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Year:  1976        PMID: 1245439

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN: 0018-022X


  5 in total

1.  Robinow syndrome in two siblings from consanguineous parents.

Authors:  D F Schorderet; S Dahoun; I Defrance; D Nusslé; M A Morris
Journal:  Eur J Pediatr       Date:  1992-08       Impact factor: 3.183

2.  Metacarpophalangeal pattern profile analysis in Robinow syndrome.

Authors:  M G Butler; D D Gale; F J Meaney; W B Wadlington; M Robinow
Journal:  Am J Med Genet       Date:  1987-05

3.  Mesomelic dysplasia with "normal or relatively long fibula", slight micrognathia and brachymetatarsals (IV-V) in a six-year-old girl.

Authors:  C Sandomenico; M L Sandomenico
Journal:  Pediatr Radiol       Date:  1983

Review 4.  Robinow syndrome: report of two patients and review of literature.

Authors:  M G Butler; W B Wadlington
Journal:  Clin Genet       Date:  1987-02       Impact factor: 4.438

5.  A new form of rhizo-mesomelic bone dysplasia.

Authors:  A Baxova; K Kozlowski; I Netriova
Journal:  Pediatr Radiol       Date:  1995
  5 in total

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