Hua Wang, M.D., Ph.D., Enas Louzy, GC., MSc.

Abstract

This case report highlights the challenges encountered during the intubation of a newborn presenting with distinctive features, prompting consideration of Treacher Collins syndrome (TSC). Subsequent genetic testing identified a novel heterozygous and pathogenic variant in TCOF1, specifically c.3671dup (p.Leu1225Alafx*16), conclusively confirming the diagnosis. Given the rarity of TSC, the significance of early diagnosis cannot be overstated, as it significantly enhances clinical management. Additionally, the unique nature of the TSC necessitates specialized intubation techniques.

Introduction

Treacher Collins syndrome (TCS; OMIM #154500), also called mandibulofacial dysostosis (MFD), was described in 1900. it is a rare autosomal dominant disorder that profoundly impacts craniofacial development during early embryogenesis. This syndrome is distinguished by a characteristic array of bilaterally symmetric features, encompassing downward-slanting palpebral fissures,coloboma of the lower eyelids, hypoplasia of midfacial bones, cleft palate, and anomalous development of the external and middle ear structures, often resulting in conductive hearing loss (1). With an estimated incidence of 1 in 50,000 individuals, TCS predominantly emerges sporadically, affecting more than 60% of cases without any discernible familial antecedents, typically arising from de novo mutations (2). Here, we report a new case of Treacher Collins syndrome and the detection of a novel pathogenic variant.