Craniofacial Morphology in Children of Mothers with the m.3243A>G Mutation in Mitochondrial DNA

Abstract

Objective

To describe craniofacial morphology in children from families with the mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS) syndrome.

Design

Transversal prospective case-control study from a tertiary center.

Subjects

Nine children (five girls, four boys; aged 7.5 to 15.3 years) of mothers with m.3243A>G mutation in mitochondrial DNA and 36 age- and sex-matched healthy children as controls.

Methods

Seventy-three cephalometric variables representing craniofacial and dental features were analyzed in lateral radiographs. The statistical dependence caused by intrafamilial correlation was taken into account by using a two-level analysis of variance model that was fitted to the data using SAS procedure MIXED.

Results

The frontal bone was thicker and the frontal sinus, mandibular symphysis width, and lower posterior face height were larger in the subjects than in the controls. Upper incisors were more labially inclined, and the interincisal angle was smaller in subjects than in the control children.

Conclusions

Differences were found in craniofacial structures between the children of mothers with m.3243A>G and unaffected children. Differences in the upper incisor inclination, mandibular symphysis width, and lower posterior face height suggest an altered mandibular growth pattern in the subjects. In addition, the children had cranial aberrations such as larger frontal sinuses and the thicker frontal bone.