A 22-year-old woman presented with facial defect and conductive deafness on the left side.
A 22-year-old woman presented at the department of plastic surgery with facial defect and conductive deafness on the left side since birth. The nose was prominent with deviation towards the right side. Cheeks were depressed and she had a small oral cavity and small tongue with receding lower jaw (Micognathia).
Both lower eyelids were drooping with anti mongoloid slant, absence of eyelashes on the medial parts of the lower eyelids (Fig. 1). Both pinnae were small, but normal in appearance. Conductive hearing loss on the left side. Mental intelligence was normal.
MDCT examination of facial and temporal bones was done on Philips Brilliance 190P, six slice multidetector CT scanner with 3D reformatting.
Malar bones were hypoplastic. Maxillary antra were well formed, with depressed anterior walls. Deviated nasal septum towards the right.
The lateral margins of orbits showed slant with large bilateral rounded supraorbital fissures (Fig. 2).
Bilateral absence of zygomatic processes of temporal bones with preserved zygomatic processes of frontal bones (Fig. 3, 4).
Mandibular angle was obtuse with receding chin. The coronoid processes are flat and hypoplastic.
Complete atresia of cartilaginous and bony components of left external auditory canal and with absence of external auditory meatus.
Left tympanic cavity was hypoplastic (Fig. 5), slit like with ill formed incudo-malleal joint. Mastoid air cells were nonpneumatised. Inner ears including vestibule-cochlear apparatuses were normal.
Small hypoplastic lateral pterygoid plates with widened shallow pterygoid fossae (Fig. 6).
TCS is an autosomal dominant genetic disease, first reported by the British opthalamologist Treacher Collins in 1849 [1, 4], with a defect in gene TCOF1, chromosome 5qlocus32 [2, 3]. The diagnosis of TCS can be easily made when the syndrome is fully expressive.
Facies: Abnormalities are bilateral and symmetrical. The nose appears large due to hypoplastic zygomatic bones and abnormal superior orbital rims.
Eyes: The palpebral fissures are short and slope laterally downwards. In the outer third of lower eyelids, a coloboma is present and the cilia are absent on the medial aspect of lower eyelids [6].
Ears: Pinnae may be malformed. The external auditory canal is stenotic or atretic [5, 6], hypoplasia of agenesis of malleus and incus, and absence or hypoplatic tympanic cavity resulting in conductive deafness [7]. Mastoids are non pneumatised.
Skull: On X-rays, malar bones, zygomatic processes, lateral pterygoid plates, paranasal sinuses and madibular condyles are flat or hypoplastic. Lateral margins of orbits are defective and orbits are hyperteloric. Calvarium is essentially normal. Cheek bones are depressed with receding chin [8].
Mouth: A cleft palate is seen in one third of cases of Treacher Collins syndrome.
Mental status: Intelligence is normal. Development is delayed due to conductive hearing loss.
Treatment should be tailored to the specific needs of each individual and preferably done by a multidisciplinary craniofacial management team that typically comprises a medical geneticist, plastic surgeon, head and neck surgeon, otolaryngologist, oral surgeon, orthodontist, audiologist, speech pathologist and psychologist.
Bone conduction amplification, speech therapy, and educational intervention are indicated for treatment of hearing loss [9].
Craniofacial reconstruction is often necessary. Generally, bone reconstruction precedes soft tissue corrections. Reconstruction can prevent the progression of facial asymmetry.
Zygomatic and orbital reconstruction when the cranio-orbitozygomatic bony development is complete. Orthognathic procedures are typically indicated before 16 years.
External ear reconstruction should be performed after six years and should precede reconstruction of the external auditory canal or middle ear.
Treacher Collins syndrome: Mandibulofacial dysostosis
Based on the provided facial and craniofacial CT images, the following key features are observed:
Considering the patient’s facial anomalies, external ear and ear canal abnormalities, lower eyelid coloboma, absence of eyelashes, and conductive hearing loss, the following differential diagnoses are suggested:
Based on the clinical presentation of this young female patient (bilateral facial underdevelopment, lower eyelid coloboma and absence of eyelashes, external ear canal atresia or hypoplasia leading to conductive hearing loss, etc.) and the imaging findings (bilateral zygomatic and external ear canal abnormalities, among others), the most likely diagnosis is:
Treacher Collins Syndrome (TCS).
Treacher Collins Syndrome primarily affects the facial skeletal and soft tissue structures, often accompanied by auricular malformations and hearing impairment. Management and rehabilitation typically require multidisciplinary collaboration, including genetic counseling, otolaryngology, craniofacial surgery, oral and maxillofacial surgery, plastic surgery, hearing aids, and speech therapy. The recommended treatment approach often includes the following:
Rehabilitation and Exercise Prescription: Maintaining appropriate levels of physical activity before and after surgery can help with overall health and postoperative recovery. The following points are recommended:
This report provides a reference analysis based on the patient’s history and imaging data and cannot replace in-person consultations or professional medical advice. If there is any discomfort or the need for a definitive diagnosis, please seek prompt evaluation at a hospital or professional medical institution.
Treacher Collins syndrome: Mandibulofacial dysostosis
