congenital anomalies associated with syndromic and non-syndromic cleft lip and palate

Objective: To evaluate our institution’s experience with cleft lip and palate patients and the associated syndromes and congenital anomalies. Design: Retrospective cross-sectional hospital-based study. Setting: King Abdul-Aziz Medical City, a major tertiary care center in Riyadh, Saudi Arabia. Patients, participants: The study included all orofacial cleft (OC) cases treated at our institution between January 2008 and December 2014. Main outcome measures: All subtypes of OC classifications with gender distribution, frequency of associated congenital anomalies, syndromes, and the sequelae of OC including otitis media and aspiration pneumonia. Results: The study included 196 patients. All OC cases were typical. Median (interquartile range) age was 9 (3–24) months, and 109/196 (56%) were male. Syndromic OC accounted for 38/196 (19%). The most common OC subtype was cleft palate (CP) in 78/196 (40%), followed by cleft-lip and palate in 67/196 (34%), and cleft-lip in 51/196 (26%). Congenital anomalies were diagnosed in 41/196 (21%) patients with congenital heart anomaly 24/41(58.5%), which was the commonest. Robin sequence was the most commonly associated clinical entity, seen in 25/196 (13%). Other syndromes identified included popliteal pterygium, Stickler, Apert, Dandy-Walker, Blepharo-cheilo-dontic, and Turner syndromes. OC subtypes differed significantly by congenital anomalies (χ2, p < 0.0001) and syndromes (χ2 p < 0.0001). Otitis media was most common in the CP subtype, seen in 55/196 (54%). Conclusions: Patients with OC are at increased risk of congenital malformations and syndromes. Routine screening for congenital heart anomalies should be considered and genetic counseling might be warranted in familial cases.