Facial morphometrics of children with non-syndromic orofacial clefts in Tanzania

Abstract

BackgroundOrofacial clefts (cleft lip/palate; CL/P) are among the most common congenital anomalies, with prevalence that varies among different ethnic groups. Craniofacial shape differences between individuals with CL/P and healthy controls have been widely reported in non-African populations. Knowledge of craniofacial shape among individuals with non-syndromic CL/P in African populations will provide further understanding of the ethnic and phenotypic variation present in non-syndromic orofacial clefts.MethodsA descriptive cross-sectional study was carried out at Bugando Medical Centre, Tanzania, comparing individuals with unrepaired non-syndromic CL/P and normal individuals without orofacial clefts. Three-dimensional (3D) facial surfaces were captured using a non-invasive 3D camera. The corresponding 3D coordinates for 26 soft tissue landmarks were used to characterize facial shape. Facial shape variation within and between groups, based on Procrustes superimposed data, was studied using geometric morphometric methods.ResultsFacial shape of children with cleft lip differed significantly from the control group, beyond the cleft itself. The CL/P group exhibited increased nasal and mouth width, increased interorbital distance, and more prognathic premaxillary region. Within the CL/P group, PCA showed that facial shape variation is associated with facial height, nasal cavity width, interorbital distance and midfacial prognathism. The isolated cleft lip (CL) and combined cleft lip and palate (CLP) groups did not differ significantly from one another (Procrustes distance = 0.0416, p = 0.50). Procrustes distance permutation tests within the CL/P group showed a significant shape difference between unilateral clefts and bilateral clefts (Procrustes distance = 0.0728, p = 0.0001). Our findings indicate the morphological variation is similar to those of studies of CL/P patients and their unaffected close relatives in non-African populations.ConclusionThe mean facial shape in African children with non-syndromic CL/P differs significantly from children without orofacial clefts. The main differences involve interorbital width, facial width and midface prognathism. The axes of facial shape differences we observed are similar to the patterns seen in Caucasian populations, despite apparent differences in cleft prevalence and cleft type distribution. Similar facial morphology in individuals with CL/P in African and Caucasian populations suggests a similar aetiology.

Radiographic Study of the Prevalence and Distribution of Hypodontia Associated with Unilateral and Bilateral Clef Lip and Palate in a Hungarian Population

“…Although the ratio that we could found was not as high as that in the literature, a comparable gender distribution was also found in our study sample. The composition of the cleft sample with UCLP being more prevalent, and being more frequent on the left side, is in accordance with most reports [ 2 , 35 , 70 , 97 , 126 ].…”

Pbx loss in cranial neural crest, unlike in epithelium, results in cleft palate only and a broader midface

“…In contrast, in non-avians, variation in midfacial outgrowth is determined primarily by differential growth of the maxilla (Young et al 2014). With direct relevance to human disease, it is notable that studies in human populations have shown the presence of broadening of the faces in patients affected by CL/P (Manyama et al 2014). In this study, we have characterized two mouse models of orofacial clefting that result from PBX loss-of-function in cephalic epithelium or CNCC-derived mesenchyme, both of which yield CL/P or CPO together with significant widening of the midfacial complex, establishing these mouse strains as unique models to dissect the complexities of orofacial clefting further.…”

Craniofacial skeleton of MEXICAN tetra (Astyanax mexicanus): As a bone disease model

“…The craniofacial skeleton is a complex trait and the full spectrum of genetic and environmental factors that contribute to its final structure remains largely unknown (Hallgrimsson et al, ; Powder and Albertson, ; Cole et al, ). Similarly, majority of the craniofacial structural birth defects have multifactorial etiology (Young et al, ; Manyama et al, ; Marcucio et al, ; Cole et al, ). The externally developing, transparent teleost embryos are excellent models to study the early events of head formation.…”

“…Cleft lip and /or cleft palate (CLP) are common birth defects that occur as a result of a failure in proper growth and fusion of the facial processes (Dixon et al, ; Manyama et al, ). Zebrafish has been identified as a model for CLP (Duncan et al, ).…”