A range of malar and masseteric hypoplasia exists in Treacher Collins syndrome.
BACKGROUND
Treacher Collins syndrome (TCS) is a facial dysostosis, the hallmark being bilateral malar hypoplasia. The purpose of this study is to morphologically classify the TCS malar deformity and to volumetrically characterise both the TCS zygoma and masseter muscle, including for left-right symmetry, compared to controls. We hypothesise that the TCS zygoma will be smaller than controls and zygomatic deficiency will portend masseteric hypoplasia.


METHODS
Demographic and computed tomography (CT) data were recorded. The CT scans were converted into three-dimensional facial renderings, and the zygomatic morphology was grossly evaluated. A classification was reported based on malar structure and presence/absence of normal zygomaticomaxillary complex articulations. The zygoma and masseter muscles were then digitally isolated using 3-D planning software (Materialise, Leuven, Belgium). Volumes and sidedness ratios were calculated and compared using two-sided t-tests.


RESULTS
58 sides were identified (24 TCS: 34 controls), mean age of 60.0 months and normally distributed. The phenotypic dysmorphology was graded as mild, moderate or severe (I, II and III, respectively). TCS malar and masseteric volumes were significantly smaller than controls (p < 0.0001 in both cases). The TCS zygomatic side-side symmetry ratio was 0.66 ± 0.28, compared to 0.97 ± 0.02 for controls (p = 0.002). The TCS masseteric side-side ratio was 0.74 ± 0.20, compared to 0.92 ± 0.09 for controls (p = 0.001).


CONCLUSIONS
A range of zygomatic hypoplasia exists in TCS (mild-severe). The decrease in malar volume occurs in concert with masseteric hypoplasia, and the left and right sides are not equally affected.
Yale University School of Medicine, Section of Plastic and Reconstructive Surgery, New Haven, CT, USA.
Kenneth R
KR
Wong
Miles J
MJ
Pfaff
Christopher C
CC
Chang
Roberto
R
Travieso
Derek M
DM
Steinbacher
D002675:Child, Preschool; D005146:Facial Asymmetry / Q000151:congenital / Q000473:pathology; D005260:Female; D006801:Humans; D021621:Imaging, Three-Dimensional; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000145:classification / Q000000981:diagnostic imaging / Q000473:pathology*; D008406:Masseter Muscle / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology*; D009929:Organ Size; D010641:Phenotype; D012189:Retrospective Studies; D014057:Tomography, X-Ray Computed; D015050:Zygoma / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology*