Robinow's syndrome
Related people
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.