The Rieger syndrome

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

Research output: Contribution to journalArticle

58 Scopus citations

Abstract

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
Volume2
Issue number3
DOIs
StatePublished - Jan 1 1978

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Jorgenson, R. J., Levin, L. S., Cross, H. E., Yoder, F., & Kelly, T. E. (1978). The Rieger syndrome. Unknown Journal, 2(3), 307-318. https://doi.org/10.1002/ajmg.1320020310