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Associated malformations in cases with oral clefts
1Medical Genetics Department of Hautepierre, Strasbourg, France. Claude.Stoll@chru-strasbourg.fr
Summary
Over one-third of infants with oral clefts (OCs) have associated malformations, most commonly affecting the central nervous system and skeletal system. Thorough investigation and genetic counseling are recommended for infants with OCs.
Area of Science:
- Pediatrics
- Medical Genetics
- Public Health
Background:
- Infants with oral clefts (OCs) frequently present with additional congenital anomalies.
- Existing data on the incidence and types of associated malformations in OCs show considerable variation across studies.
Purpose of the Study:
- To determine the prevalence of associated malformations in infants with oral clefts within a defined geographical population.
Main Methods:
- A population-based study analyzed data from 238,942 consecutive births between 1979 and 1996.
- Prevalence of birth defects in infants with OCs was recorded using a registry of congenital anomalies.
Main Results:
- 36.7% of 460 infants with OCs had associated malformations.
- Cleft palate cases showed the highest rate (46.7%) of associated defects.
- Central nervous system and skeletal malformations were most common, followed by urogenital and cardiovascular anomalies.
Conclusions:
- The high prevalence of malformations in infants with OCs necessitates comprehensive evaluation.
- Screening for skeletal, central nervous system, and cardiac defects is advised.
- Genetic counseling is recommended for complicated cases.