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Etiopathogenesis of isolated Robin sequence
I L Marques1, M A Barbieri, H Bettiol
1Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, SP, Brazil. llais@mailcity.com
Summary
Heredity may play a role in isolated Robin sequence. This study suggests that cleft palate, often complete and U-shaped, is the primary factor causing micrognathia, glossoptosis, and cleft palate.
Area of Science:
- Craniofacial anomalies
- Genetics
- Pediatric medicine
Background:
- Robin sequence is a congenital condition characterized by micrognathia, glossoptosis, and airway obstruction.
- Isolated Robin sequence lacks other associated syndromes or malformations, making its etiology complex.
- Understanding the etiopathogenesis is crucial for diagnosis and management.
Purpose of the Study:
- To investigate the etiopathogenesis of isolated Robin sequence.
- To explore the potential role of heredity in the development of this condition.
- To identify the primary anomaly in the triad.
Main Methods:
- A longitudinal, prospective study of 36 children with isolated Robin sequence.
- Exclusion of cases with Stickler syndrome or other malformations.
- Clinical and ophthalmological examinations from 1 month to 4 years of age.
- Family history assessment for cleft lip/palate.
Main Results:
- A family history of cleft lip/palate was present in 27.7% of cases.
- Complete U-shaped cleft palate was the most frequent type (75%).
- Other relatives had isolated cleft palate or cleft lip with/without cleft palate.
Conclusions:
- Heredity is a potential contributing factor in isolated Robin sequence.
- Cleft palate, typically complete and U-shaped, is likely the primary event.
- This finding aids in understanding the determination of the Robin sequence triad.