Clinical spectrum of Treacher Collins syndrome

Abstract

Treacher Collins syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. It is an autosomal-dominant disorder of the craniofacial development occurring between the fifth and the eighth weeks of embryonic development with an incidence of 1/50,000 live births, range between 1-40,000 and 1-70,000. We present here the various clinical, radiographical and other diagnostic findings of the TCS to correlate the clinical assessment with the diagnostic imaging and review the various investigations and management options being carried out to improve their facial deformity.

Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome

“…The condition was first described by Thompson in 1846, however TCS was named after E. Treacher Collins, who described the essential components of the condition in 1900 (5). The first extensive review of the condition was performed by Franceschetti and Klein in 1949, who used the term mandibulofacial dysostosis (MFD) to describe relative clinical features (6)(7)(8). The major characteristics of TCS include cleft palate, hypoplasia of the facial bones, the mandible and zygomatic complex, downward slanting of the palpebral fissures and malformation of the external and middle ear (9)(10)(11)(12).…”

The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes: A literature review and three case reports

“…It is recommended that orthodontic and dental corrections should be undertaken once definitive skeletal repair is finalized. 33,34,44,49,82 Clinical examination allows observing many craniofacial changes of these syndromes, but many abnormalities of the cervical spine do not manifest themselves symptomatically until adolescence or young adulthood. The cervical spine anomalies can be divided into syndromic and nonsyndromic malformations.…”

“…In a number of cases the palate is high, arched and occasionally cleft. [42][43][44] Ophthalmic anomalies include downward slanting "antimongoloid" of the palpebral fissures with notching of the lower eyelids and a paucity of lid lashes medial to the defect. 45 Other clinical features of TSC include changes in the shape, size and position of the external ears, which are frequently associated with atresia of the external auditory canals and anomalies of the middle ear ossicles.…”

Zygomatic‐orbital reconstruction in patient with Treacher Collins syndrome using bioceramic made of hydroxyapatite and β‐tricalcium phosphate

“…Individuals with TCS have similar clinical characteristics with symmetrical, bilateral involvement, such as underdeveloped, lowly positioned ears, atresia of the outer ear canal and malformation of the middle ear ossicules, resulting in hearing impairment in approximately 50% of the patients. The antimongoloid slant of the eyelids and underdeveloped zygomatic complex are the minimum criteria of the syndrome.…”