Variability of expression of oral-facial-digital syndrome type I in 15 Saudi girls: Why is there a high rate of median cleft lip in the phenotype?. Issue 4 (December 2014)

• Record Type: Journal Article
• Authors: Al-Qattan, Mohammad M; Javed, K
• Is Part Of: Plastic surgery. Volume 22:Issue 4(2014)
• Page Start: 229
• Page End: 232
• Publication Date: 2014-12
• Subjects: Arabs -- Expression -- Oral-facial-digital -- Saudi; Surgery, Plastic -- Periodicals; Surger, Plastic; Surgery, Plastic; Periodicals; Periodicals; Fulltext; Internet Resources; Periodicals; 617.95005
• DOI: 10.1177/229255031402200413
• Languages: English
• ISSNs: 2292-5503

Abstract

Background: It is well known that the incidence of nonsyndromal cleft lip and palate varies greatly according to ancestry: 0.3 to 0.4 per 1000 live births in blacks, one in 1000 in Caucasians, and two in 1000 in Asians and individuals from the central province of Saudi Arabia. Median cleft lip is a variable feature in oral-facial-digital syndrome type I (OFD-I). Objective: To test the hypothesis that genetic factors may determine the lip phenotype in OFD-I patients. Methods: A study involving 15 Saudi girls (from the central province of Saudi Arabia) with OFD-I showed a high rate (93.3%) of median cleft lip and palate. This rate in OFD-I patients is known to range from 33% to 56% in Caucasians and also known to be very low in blacks. The authors compared the rate of median cleft lip with or without cleft palate in the Arabian series (93.3%) with the rate in Caucasians and blacks. Results: The difference in median cleft lip with or without cleft palate among the three groups was significant. Conclusion: This supports the hypothesis that ancestral genetic factors may determine the lip phenotype in OFD-I patients.