Diagnosis of Treacher-Collins Syndrome: The role of the multidisciplinary team in patient management and family genetic counseling

Abstract

INTRODUCTION: Although Treacher-Collins syndrome has to be considered a differential diagnosis
in congenital craniofacial abnormalities, the clinical diagnosis and research related to it still present
a gap, especially in African regions. Thus, this work aims at highlighting this syndrome's clinical
features for raising medical awareness.
CLINICAL CASE: We reviewed a 1-year-old patient referred to our clinical genetic unit at Rwanda
military hospital, Kigali, Rwanda. Physical examinations indicated severe craniofacial abnormalities,
including downward-sloping eyes, slight notching of the lower lids, small and underdeveloped
eyebrow bones, vision problems, small outer ears, small and underdeveloped cheekbones, and
jaw. Within the limits of the techniques used in our laboratory, the cytogenetic analysis revealed
a normal karyotype, 46, XY.
CONCLUSION: The patient was diagnosed with Treacher-Collins syndrome based on clinical
manifestations of craniofacial features. Nevertheless, laboratory tests performed were limited to
karyotyping and should not detect any gene defect. Long-term follow-up of the patient and his
family was recommended. Further molecular analyses should be performed to identify causing
genetic mutation mainly in the TCOF1, POLR1C, or POLR1D genes.