The Rieger syndrome

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

Research output: Contribution to journalArticle

58 Citations (Scopus)

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
JournalAmerican Journal of Medical Genetics
Volume2
Issue number3
StatePublished - 1978
Externally publishedYes

Fingerprint

Anodontia
Umbilicus
Hypospadias
Skin
Cicatrix
Axenfeld-Rieger syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Jorgenson, R. J., Levin, L. S., Cross, H. E., Yoder, F., & Kelly, T. E. (1978). The Rieger syndrome. American Journal of Medical Genetics, 2(3), 307-318.

The Rieger syndrome. / Jorgenson, R. J.; Levin, L. S.; Cross, Harold E; Yoder, F.; Kelly, T. E.

In: American Journal of Medical Genetics, Vol. 2, No. 3, 1978, p. 307-318.

Research output: Contribution to journalArticle

Jorgenson, RJ, Levin, LS, Cross, HE, Yoder, F & Kelly, TE 1978, 'The Rieger syndrome', American Journal of Medical Genetics, vol. 2, no. 3, pp. 307-318.
Jorgenson RJ, Levin LS, Cross HE, Yoder F, Kelly TE. The Rieger syndrome. American Journal of Medical Genetics. 1978;2(3):307-318.
Jorgenson, R. J. ; Levin, L. S. ; Cross, Harold E ; Yoder, F. ; Kelly, T. E. / The Rieger syndrome. In: American Journal of Medical Genetics. 1978 ; Vol. 2, No. 3. pp. 307-318.
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