The Rieger syndrome

R. J. Jorgenson, L. S. Levin, H. E. Cross, F. Yoder, T. E. Kelly

Research output: Contribution to journalArticlepeer-review

64 Scopus citations


Fourteen patients with hypodontia and the ocular features of the Rieger syndrome were examined for the presence of systemic anomalies. A periumbilical defect that consisted of failure of the periumbilical skin to involute was seen in ten of the thirteen evaluated for the defect. Three others had scars over the umbilical area and had a history of surgery for herniation. In addition, four males in one family and one male from another family had hypospadias. None of several other anomalies reported to be components of the Rieger syndrome by other authors was detected in the fourteen patients. The mode of inheritance in the familial cases studied was compatible with autosomal dominance. The results of this study indicate that the Rieger syndrome is an autosomal dominant syndrome whose cardinal features are hypodontia, goniodysgenesis, and failure of the periumbilical skin to involute properly.

Original languageEnglish (US)
Pages (from-to)307-318
Number of pages12
JournalUnknown Journal
Issue number3
StatePublished - 1978
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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