Impact and risk factors of craniofacial malformations in a Colombian population

Craniofacial malformations comprise diverse diagnoses, implying a wide range of morbidity and disability among populations. Our aim was to study them as a group and describe their epidemiological factors inside a population as well as finding common risk factors for their presentation in Colombia.

We conducted a case-control study in several Colombian hospitals participating in the ECLAMC (Spanish acronym for Latin-American Collaborative Study of Congenital Malformations) program. For the analysis we included 374 cases of isolated malformations and 728 controls, out of 44,701 births.

A rate of 83.67 cases per 10,000 births was found for craniofacial malformations as a group, with an overall sex ratio of 1. We found predominance for their presentation on the right side. As main associations we obtained a positive family history of another craniofacial malformation (OR: 3.10 CI 95% [2.24-4.30]), particularly preauricular tags (OR 52.36 CI 95% [12.62-217.16]), preauricular pits (OR: 36.35 CI 95% [4.82-274.27]) and cleft lip with or without palate (OR: 2.50 CI 95% [1.07-5.84]). Medication use during pregnancy was also linked to malformations (OR: 2.00 CI 95% [1.38-2.89]). Specific agents such as ferrous sulfate (OR: 1.46 CI 95% [1.13-1.89]), folic acid (OR: 1.35 CI 95% [1.02-1.79]) and nifedipine (OR: 2.88 CI 95% [1.22-6.79]) also showed a significant correlation. Maternal alcohol use was also identified as a possible risk factor (OR: 2.45 CI 95% [1.39-4.29]).

Craniofacial malformations are frequently encountered among the group of congenital defects. When they present in an isolated fashion, familial history is an important risk factor, although some prenatal factors such as alcohol and some medications may have influence over their prevalence.