- A dictionary of medical eponyms

Robinow's syndrome

Alternative eponyms

  • Robinow's dwarfism
  • Robinow-Silverman-Smith syndrome

Related people

A syndrome of multiple cogenital anomalies, including foetal-like facies, mesomelic dwarfism, and genital hypoplasia.

Description

A rare syndrome characterized by unusual (foetal-like) facies, mesomelic shortening of the forearms, hemivertebrae, genital hypoplasia, frontal bossing, hypertelorism, wide palpebral fissures, short upturned nose with anteverted nares, long philtrum, receding chin, brachydactyly, and a long list of other anomalies. Both sexes affected. Present from birth. Intelligence is usually normal but delayed physical and mental development noted in about 18%. Inheritance is usually autosomal dominant but recessive and sporadic cases have been reported. First described by Robinow et al on the basis of a family with affected persons in six generations.

Bibliography

  • M. Robinow, F. N. Silverman, H. D. Smith:
    A newly recognized dwarfing syndrome.
    American Journal of Diseases of Children, Chicago, 1969, 117: 645-651.
  • W. B. Wadlington, V. L. Tucker, R. N. Schimke:
    Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome).
    American Journal of Diseases of Children, Chicago, 1971, 126: 202-205
  • J. M. Vera-Roman:
    Robinow syndrome accompanied by penile agenesis and hemivertebrae.
    American Journal of Diseases of Children, Chicago, 1973, 136: 206-208.
  • M. Robinow:
    Fetal face syndrome.
    In: D. Bergsma, editor: Birth Defects Atlas and Compendium. Baltimore: Williams & Wilkins, 1973, pp. 410-411.
  • M. Robinow:
    A syndrome's progress.
    American Journal of Diseases of Children, Chicago, 1973, 126:150.
  • M. Robinow:
    The Robinow (fetal face) syndrome: A continuing puzzle.
    Clinical Dysmorphology, London, 1993, 2:189-198.
  • M. Robinow, R. J. Markert:
    The fetal face (Robinow) syndrome. Delineation of the dominant and recessive phenotypes.
    Proceedings of the Greenwood Genetic Center, 1988, 7: 144.
  • Albert Schinzel et al:
    Fetal face syndrome with acral dysostosis.
    Helvetica paediatrica acta, Basel, 1974, 29:55-60.
  • R. E. Seel et al:
    Das Fetalgesicht-Minderwuchs-Syndrom nach Robinow.
    Monatsschrift für Kinderheilkunde, Berlin 1974, 122: 663-664
  • Eva Seemanová et al:
    Fetal face syndrome with mental retardation.
    Humangenetik, Berlin, 1974, 23: 79-81.

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