Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

The Rieger syndrome.

R J Jorgenson, L S Levin, H E Cross

American Journal of Medical Genetics

|January 1, 1978

Summary

This summary is machine-generated.

Rieger syndrome, characterized by hypodontia and eye issues, often includes a specific umbilical skin defect and sometimes hypospadias. This autosomal dominant condition

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Microvascular free flap coverage for salvage of the infected total knee arthroplasty.

The bone & joint journal·2020

Same author

Outcomes of sympathectomy and vascular bypass for digital ischaemia in connective tissue disorders.

The Journal of hand surgery, European volume·2017

Same author

To reverse or not to reverse? A systematic review of autograft polarity on functional outcomes following peripheral nerve repair surgery.

Microsurgery·2016

Same author

Osteocutaneous defects of the clavicle: two case reports, analysis of the literature, and a novel management algorithm.

Journal of plastic, reconstructive & aesthetic surgery : JPRAS·2013

Same author

Immunology of vascularized composite allotransplantation: a primer for hand surgeons.

The Journal of hand surgery·2012

Same author

Quadrimembral amputation: indications and contraindications for vascularized composite allotransplantation.

Transplantation proceedings·2011

Same journal

Abstracts for the Xth World Congress of Psychiatric Genetics. Brussels, Belgium, 9-13 October 2002.

American journal of medical genetics·2003

Same journal

Defects of blastogenesis.

American journal of medical genetics·2002

Same journal

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002

Same journal

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002

Same journal

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002

Same journal

Status of the human malformation map: 2002.

American journal of medical genetics·2002

See all related articles

Area of Science:

Genetics
Ophthalmology
Pediatrics

Background:

Rieger syndrome is a genetic disorder.
It is characterized by dental anomalies, specifically hypodontia (missing teeth), and ocular abnormalities.
Systemic involvement is variable and requires further investigation.

Purpose of the Study:

To investigate the prevalence of systemic anomalies in patients with Rieger syndrome.
To identify cardinal features of Rieger syndrome.
To determine the mode of inheritance.

Main Methods:

Clinical examination of fourteen patients with hypodontia and ocular features of Rieger syndrome.
Evaluation for specific systemic anomalies, including periumbilical defects and hypospadias.
Family history analysis to assess inheritance patterns.

Related Experiment Videos

Main Results:

A periumbilical defect (failure of skin to involute) was observed in 10 of 13 evaluated patients.
Hypospadias was present in five males across two families.
Other commonly reported anomalies associated with Rieger syndrome were not detected in this cohort.

Conclusions:

Rieger syndrome is an autosomal dominant condition.
Key features include hypodontia, goniodysgenesis, and abnormal periumbilical skin development.
The syndrome's presentation can be variable, emphasizing the need for comprehensive assessment.