[Epidemiology of malformations associated with cleft lip and palate: a retrospective study of 324 cases].

PURPOSE: Children with cleft lip and/or palate may have associated malformations, whether or not they are included in a syndromic form. This study's purpose was to provide a better understanding of the epidemiology and distribution of malformations and syndromes associated with these clefts.

METHODS: Retrospective study of 324 patients with cleft lip or palate born between 1994 and 2011. The associated malformations were diagnosed during the 1st year of life.

RESULTS: Cleft lip or labioalveolar clefts were less frequently associated with other malformations than cleft palate. These nonsyndromic malformations preferentially affected the urogenital and renal system in case of cleft palate (48.5%) and the cardiovascular system for clefts with a lip defect (30.5%). The syndromic forms were rare in the cleft lip and labioalveolar clefts (3.47%). In contrast, cleft palate appeared much more frequently included in a syndromic form, with 52 children out of 151 (34.4%). The Pierre-Robin sequence was the most frequent syndrome with more than 25% of the cleft palate population. The defect of the palate was associated with a higher rate of other malformations or syndromes (36.51% vs 29.9% for the entire population with a cleft) (n=324) (P<0.001).

CONCLUSIONS: The distribution of malformations appears to be linked to the type of cleft. These findings underline the importance of conducting a systematic neonatal malformation workup in children born with clefts in order to diagnose abnormalities and organize effective and consistent management.