Pattern of craniofacial anomalies seen in a tertiary care hospital in Saudi Arabia

BACKGROUND AND OBJECTIVE: To date, there are no published studies from Saudi Arabia on the incidence or etiology of craniofacial anomalies. This study aimed to report the patterns of craniofacial anomalies in Saudi Arabia. DESIGN AND SETTING: Hospital-based, descriptive study conducted during 2002 to 2009 in the Cleft Lip/Palate and Craniofacial Anomalies Registry at King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. PATIENTS AND METHODS: Data was collected on craniofacial patients in the registry. RESULTS: Of the 447 craniofacial patients (male, 242; female, 205), 109 (24.4%) had only cranial anomalies, 261 (58.4%) had only facial anomalies and 77 (17.2%) had both of these conditions. Craniosynostosis was seen in 33.3% of the total patients (81 males and 68 females). Of the 65 craniosynostosis syndromic patients, 25 (38.5%) had Apert syndrome and 18 (27.7%) had Crouzon syndrome. Among facial anomalies, 47 (19.4%) had dysmorphic features, followed by 35 (14.5%) with micrognathia. Among facial syndromes, 72 (59.0%) were observed to have Pierre-Robin sequence, 17 (13.9%) had Goldenhar syndrome and another 17 (13.9%) had Van der Woude syndrome. Cleft palate was more common in 171 (56.8%) patients as an associated deformity, followed by cleft lip with cleft palate in 99 (32.9%) and cleft lip in 23 (7.6%) patients. Of the 224 patients having other congenital anomalies, the cardiovascular system was most commonly affected, with 46 (20.5%) children diagnosed with congenital heart disease. A family history of anomalies was observed more in children born to parents of a consanguineous marriage than in those whose parents were unrelated (P=.01). CONCLUSIONS: Additional efforts should be made towards creating awareness among the general population about these deformities in relation to consanguinity.