P127 Orofacial clefts and ocular anomalies: a 27 year review of a portuguese tertiary hospital

2019 
Introduction/aim Orofacial clefts (OFC) are the most common congenital malformation worldwide with an estimated prevalence of 1.55 per 1000 live births in Europe. The etiology of OFC is thought to be multifactorial with genetic and teratogenic factors playing a role. They can occur isolated or in association with multiple syndromes. Although common, there are few published studies focusing on the subject The aim of this study is to describe the ocular anomalies found within a population of patients with OFC. Methods A retrospective analysis of medical reports of patients that attended or are attending the clinic of Clef Lip and Palate multidisciplinary group at Centro Hospitalar Sao Joao in Porto - Portugal over a period of 27 years between January 1992 and December 2018. OFC types were classified according to Spina classification: cleft lip (CL), cleft lip and palate (CLP), isolated cleft palate (CP) and atypical clefts (AC). Results In total, 617 patients were included from which 106 (17.2%) had ocular anomalies, which were the most frequent type of anomaly within the study group; 58.8% were females. The most frequent ocular findings were myopia (30%), strabismus (21%) and astigmatism (14%). Other relevant findings were the presence of coloboma in 8.5%, short palpebral fissure in 8.5% and microphthalmia in 6.6%. Ocular anomalies were mostly related to CP (61.7%) followed by CLP (26.2%) and CL (10.3%). From the total sample of 106 patients, 70% had an identified syndrome, the most common being the Pierre Robin Sequence or Syndrome. Other systems were affected as well with 38% of patients showing other craniofacial anomalies and 39% cardiovascular anomalies. Conclusions Ocular anomalies are frequent in the general population namely refractive errors such as myopia. Despite that, an important number of syndromes and congenital malformations are associated to ocular anomalies and OFC are among those. Although a significant number of patients with ocular anomalies were syndromic, not all OFC patients had other associated malformations. Therefore, awareness of the possible ocular malformations associated with OFC could provide a quick diagnosis and management of the affected patients.
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