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Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study.

Andreas Printzlau¹, Mikael Andersen

¹Clinic of Plastic Surgery and Burns, University Hospital of Copenhagen, Copenhagen, Denmark. aprintzlau@hotmail.com

The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association

|December 31, 2003

Summary

Pierre Robin sequence, characterized by micrognathia, cleft palate, and respiratory distress, affects 1 in 14,000 live births. This clinical entity, often associated with other malformations and intrauterine impairments, warrants further study for treatment protocols.

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Area of Science:

Pediatric epidemiology
Clinical genetics
Neonatology

Background:

Pierre Robin sequence is a clinical condition defined by retrognathia, micrognathia, cleft palate, and respiratory distress.
The nosological status and etiological diversity of Pierre Robin sequence have been debated.
Understanding the epidemiological characteristics and associated conditions is crucial for clinical management.

Purpose of the Study:

To provide an epidemiological description of Pierre Robin sequence.
To detail associated malformations and potential intrauterine impairments.
To evaluate its status as a distinct clinical entity.

Main Methods:

Retrospective population-based study of Danish live births from 1990-1999.
Inclusion criteria: micrognathia, cleft palate, and neonatal respiratory distress.

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Identified 50 children meeting the criteria, yielding an incidence of 1 in 14,000 live births.

Main Results:

Two-thirds of affected children had a U-shaped cleft palate.
Over one-third presented with additional malformations, including Stickler syndrome in 6 patients.
More than a quarter experienced intrauterine impairment, with average birth weight significantly below normal.

Conclusions:

The triad of Pierre Robin can be considered a definable clinical entity at birth.
Despite diverse etiologies, affected infants share similar neonatal challenges.
This supports the development of standardized treatment protocols for scientific evaluation.