Comparison of post-surgical soft tissue changes between bilateral cleft patients treated with and without a modified nasoalveolar molding appliance: A cohort study.

INTRODUCTION: The advantages of nasoalveolar molding (NAM) treatment for cleft lip and palate (CLP) patients have been well documented. A modified design for bilateral CLP was introduced. AIMS: This paper aimed to: 1- quantify the soft tissue changes after applying modified NAM treatment to these patients; and 2-compare post-surgical changes to a control group where no NAM was used. MATERIAL AND METHODS: At a tertiary care paediatric hospital, a historical cohort group of complete BCLP patients (n=15) was compared to a prospectively collected group of complete BCLP patients who underwent NAM therapy (n=15). In the NAM group (mean age: 1.1mos±0.2), a new modification of the NAM appliance was implemented. In the control group (mean age: 5mos±0.2), no NAM treatment was adopted prior to lip closure surgery. Soft tissue nasolabial segments were measured on initial (T1), post-NAM (T2) and 3 months post-surgery (T3) photographs; measurements were analysed statistically. RESULTS: In the NAM group, cleft size was reduced by 68 to 70% in 4-5months and all measurements improved between T1 and T2. Columellar crest inclination decreased by 74%, columellar length increased by 184%, nostril and bialar widths decreased by 36% and 16%, respectively. The lip philtrum was elongated by 49.5%. At T3, all soft tissue variables statistically improved better in NAM versus non-NAM groups. CONCLUSION: The modified NAM appliance provided improved results of lip approximation and nasal measurements compared to non-NAM treatment.

Three novel genes tied to mandibular prognathism in eastern Mediterranean families.

INTRODUCTION: Mandibular prognathism (MP) is subject to major polygenic influence and segregates within families in autosomal dominance with variable expressivity and incomplete penetrance. We aimed to identify the inheritance pattern and genes and loci involved in the development of MP in Mediterranean families and to evaluate the dentoskeletal characteristics of affected individuals. METHODS: Fifty-one eastern Mediterranean families with individuals affected by MP were identified. Data and biospecimens were collected from 14 of the families, including clinical examination, lateral cephalography (on subjects with Class III malocclusion), and 5 mL blood drawn from consenting affected and nonaffected relatives. Next-generation sequencing (NGS) was performed on 8 families (7 Lebanese, 1 Lebanese/Syrian), including large numbers of affected individuals over many generations and severe conditions, with the use of whole-exome sequencing. RESULTS: Most pedigrees suggested autosomal-dominant inheritance with an equal number of affected male and female individuals. Affected individuals had macrognathic and prognathic mandibles with dentoalveolar compensation. Genetic screening did not correspond with previously reported MP-linked genes, but yielded 3 novel genes (C1orf167, NBPF8, NBPF9) on chromosome 1 potentially responsible for mandibular development and macrognathism. CONCLUSIONS: In this first genetic study with the use of NGS on the largest reported number of families with MP, novel genes (C1orf167, NBPF8, NBPF9) were associated with familial MP in the eastern Mediterranean population.