ABSTRACT
Treacher Collins syndrome (TCS) is characterized by downslanting palpebral fissures on both sides, malar hypoplasia, micrognathia, and external ear abnormalities. Hypoplasia of the zygomatic bones and jaw may make it difficult to eat and breathe. TCS, also known as Franceschetti syndrome or mandibulofacial dysostosis, is an autosomal dominant craniofacial condition with a wide range of symptoms. Edward Treacher Collins (1862?1932), an English ophthalmologist, first defined the syndrome’s fundamental characteristics in 1900. This syndrome is approximately affecting 1 in 50,000 live births with equal gender affection. In Saudi Arabia, it follows a similar pattern of prevalence. Antimongoloid slanting palpebral fissures, colobomas of the lower eyelid, hypoplasia of the zygoma and mandible, auditory microtia, conductive hearing loss, obstructive sleep apnea, and a range of orofacial abnormalities are the most prevalent clinical symptoms of TCS. In this case report, the author describes a deep-rooted analysis of the clinical features of TCS in a 9-year-old boy as well as his follow-up case. The study was conducted for a period of 9 years from birth to 9 year-old age, which makes this case report as a special rare 9-year follow-up case report from Saudi Arabia.
ABSTRACT
The function of a genioplasty is to produce an aesthetically pleasing chin contour and improve facial proportions. The aim of this study was to review the role of osseous genioplasty in the management of patients with craniofacial deformities. 52 patients (24 males and 28 females) treated at the Australian Craniofacial Unit in Adelaide, Australia over a 25-year period; who required a genioplasty as part of their craniofacial management were reviewed. Patients ranged from 17-44 years (median: 26 years) and the age at which the patients underwent genioplasty was between 9 and 36 years (median: 17 years). Pre and 6 months post op cephalograms were compared, showing a mean chin advancement of 7mm and a mean osseous resorption of 20%. One patient was under-corrected and another had post-operative asymmetry, both requiring repeat genioplasty. No long-term nerve dysfunction was noted. The osseous genioplasty is an effective procedure for correcting the chin deformity often seen in patients with craniofacial abnormalities. It is an easy technique to master and is associated with a low degree of morbidity.