A rare case of Gardner syndrome in an African adult male: A case report.

Gardner's syndrome with the complete manifestation of colonic and extracolonic features is uncommon. Therefore, every clinician should view extracolonic features with a high index of suspicion. This may be key to early diagnosis, definitive management in these patients and importantly, helps prevent malignant transformation of existing colonic polyps.

A comparative study of quality of life of families with children born with cleft lip and/or palate before and after surgical treatment.

OBJECTIVES: The aim of this study was to compare the quality of life (QoL) of parents/caregivers of children with cleft lip and/or palate before and after surgical repair of an orofacial cleft. MATERIALS AND METHODS: Families of subjects who required either primary or secondary orofacial cleft repair who satisfied the inclusion criteria were recruited. A preoperative and postoperative health-related QoL questionnaire, the 'Impact on Family Scale' (IOFS), was applied in order to detect the subjectively perceived QoL in the affected family before and after surgical intervention. The mean pre- and postoperative total scores were compared using paired t-test. Pre- and postoperative mean scores were also compared across the 5 domains of the IOFS. RESULTS: The proportion of families whose QoL was affected before surgery was 95.7%. The domains with the greatest impact preoperatively were the financial domain and social domains. Families having children with bilateral cleft lip showed QoL effects mostly in the social domain and 'impact on sibling' domain. Postoperatively, the mean total QoL score was significantly lower than the mean preoperative QoL score, indicating significant improvement in QoL (P<0.001). The mean postoperative QoL score was also significantly lower than the mean preoperative QoL score in all domains. Only 3.2% of the families reported affectation of their QoL after surgery. The domains of mastery (61.3%) with a mean of 7.4±1.8 and finance (45.1%) with a mean score of 7.2±1.6 were those showing the greatest postoperative impact. The proportion of families whose QoL was affected by orofacial cleft was markedly different after treatment (95.7% preoperative and 3.2% postoperative). CONCLUSION: Caring for children with orofacial clefts significantly reduces the QoL of parents/caregivers in all domains. However, surgical intervention significantly improves the QoL of the parents/caregivers of these children.

Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa.

Orofacial clefts (OFC) are complex genetic traits that are often classified as syndromic or nonsyndromic clefts. Currently, there are over 500 types of syndromic clefts in the Online Mendelian Inheritance in Man (OMIM) database, of which Van der Woude syndrome (VWS) is one of the most common (accounting for 2% of all OFC). Popliteal pterygium syndrome (PPS) is considered to be a more severe form of VWS. Mutations in the IRF6 gene have been reported worldwide to cause VWS and PPS. Here, we report studies of families with VWS and PPS in sub-Saharan Africa. We screened the DNA of eight families with VWS and one family with PPS from Nigeria and Ethiopia by Sanger sequencing of the most commonly affected exons in IRF6 (exons 3, 4, 7, and 9). For the VWS families, we found a novel nonsense variant in exon 4 (p.Lys66X), a novel splice-site variant in exon 4 (p.Pro126Pro), a novel missense variant in exon 4 (p.Phe230Leu), a previously reported splice-site variant in exon 7 that changes the acceptor splice site, and a known missense variant in exon 7 (p.Leu251Pro). A previously known missense variant was found in exon 4 (p.Arg84His) in the PPS family. All the mutations segregate in the families. Our data confirm the presence of IRF6-related VWS and PPS in sub-Saharan Africa and highlights the importance of screening for novel mutations in known genes when studying diverse global populations. This is important for counseling and prenatal diagnosis for high-risk families.

Van der Woude syndrome: a review of 11 cases seen at the Lagos University Teaching Hospital.

BACKGROUND: Van der Woude syndrome (VWS), an autosomal dominant condition associated with clefts of the lip and/or palate and lower lip pits and is caused by mutations in interferon regulatory factor six gene. It is reported to be the most common syndromic cleft world-wide. Non-penetrance for the lip pit phenotype is found in at least 10% of affected individuals and those without the pits are phenocopies for non-syndromic clefting. The aim of this study is to present the phenotypic characteristic of VWS seen at the Lagos University Teaching Hospital (LUTH) cleft clinic. MATERIALS AND METHODS: A review of cases of patients with VWS that attended the cleft lip and palate clinic at the LUTH Idi-Araba, Lagos, from January 2007 to December 2012 was conducted. Data analyses included sex of affected patients, types of cleft, presence of lower lip pits and history of lower lip pits/cleft in the family. RESULTS: A total of 11 cases were seen during the period (male = 4; female = 7). Age at presentation ranged between 1 week and 12 years, with majority (n = 10) less than 2 years of age. Bilateral cleft lip and palate (BCLP) was seen in six patients, isolated soft palatal cleft (n = 3) and unilateral cleft lip and alveolus (n = 1) and cleft of hard and soft palate (n = 1). Bilateral lower lips were presented in 10 out of the 11 cases. The mother of the only patient without lip pits presented with bilateral lower lip pits. No family history of cleft/lip pits was elicited in 10 other cases. CONCLUSION: Most of the cases of VWS presented with BCLP and lower lip pits. Non-penetrance for the lip pits was seen in one out of 11 cases. Our study emphasizes the need to screen family members in all cleft cases, especially clinically diagnosed non-syndromic cases who may be VWS with no lip pits. Future studies are required to investigate the genetic causes of this syndrome in our population.