[Renal agenesis and the Fraser syndrome: 4 observations]

J Genet Hum. 1989 Dec;37(4-5):373-7.
[Article in French]

Abstract

The authors report on 4 cases of Fraser syndrome in 2 Turkish families. Both families are consanguinous. In 3 cases there is a bilateral renal agenesis, a feature which is not usually regarded as a main one. Actually the survey of the literature reveals that renal anomalies are not infrequent in this syndrome, even though the cryptophtalmos would be lacking. A five year study of the malformations Registry of the Rhone-Alpes-Auvergne-Jura area shows that the association between renal agenesis and syndactyly (with or without the eye abnormalities) is quite rare. Such an association leads to the diagnosis of Fraser Syndrome even when cryptophtalmos is absent, and requires to look for minor ENT or ophthalmic symptoms by a careful post mortem examination.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Abnormalities, Multiple / genetics
  • Consanguinity
  • Eye Abnormalities / genetics*
  • Face / abnormalities
  • Female
  • Fingers / abnormalities
  • Humans
  • Kidney / abnormalities*
  • Male
  • Syndrome