Associated malformations in infants with cleft lip and palate: a prospective, population-based study

Infants with cleft lip and palate may often have other associated congenital defects although the reported incidence and the types of associated malformations vary between different studies. The purpose of this investigation was to assess the prevalence of associated malformations in a geographically defined population.

The prevalence of associated malformations in infants with clefts were collected prospectively between 1975 to 1992 on all infants born in greater Stockholm, Sweden. The patient records were also compared with data from the National Malformation Registry and other hospital records if any.

Of the 616 cleft infants (367 boys, 249 girls) born during this period, 21% had associated malformations that either required follow-up or treatment. Associated malformations were more frequent in infants who had both cleft lip and palate (28%) than in infants with isolated cleft palate (22%) or infants with isolated cleft lip (8%). Malformations of the upper or lower limbs or the vertebral column were the most common other anomalies and accounted for 33% of all associated defects. Twenty-four percent of associated malformations were in the cardiovascular system and congenital heart disease was the most common isolated associated malformation. Fifteen percent of all associated malformations were multiple and they were frequently associated with mental retardation or chromosomal anomalies. Twenty-two percent of infants with associated malformations were born preterm, compared with an expected 5% incidence of preterm delivery in Sweden.

A more extensive cleft seems to be associated with a higher risk for associated malformations. Although many associated congenital defects can be detected at a physical examination, the high prevalence of congenital heart disease (16 times that of general population) may justify a routine echocardiographic screening.