Management of Hearing Loss in Patients with Treacher-Collins Syndrome and Hemifacial Microsomia

2022 ◽  
pp. 167-176
Author(s):  
Evan C. Cumpston ◽  
Andrea Sweetnam ◽  
Brian Perry
Keyword(s):  
Hearing Loss ◽  
Treacher Collins Syndrome ◽  
Hemifacial Microsomia

Difficult Laryngoscopy/Intubation: The Child with Mandibular Hypoplasia

1983 ◽  
Vol 92 (4) ◽  
pp. 401-404 ◽  
Author(s):  
Steven D. Handler ◽  
Thomas P. Keon
Keyword(s):  
Temporomandibular Joint ◽  
Direct Laryngoscopy ◽  
Anterior Commissure ◽  
Difficult Laryngoscopy ◽  
Treacher Collins Syndrome ◽  
Pierre Robin Sequence ◽  
Hemifacial Microsomia ◽  
Mandibular Hypoplasia ◽  
Pierre Robin ◽  
Infants And Young Children

The child with mandibular hypoplasia (Treacher Collins syndrome, Pierre Robin sequence, hemifacial microsomia, etc) presents the otolaryngologist and anesthesiologist with considerable problems when direct laryngoscopy and/or endotracheal intubation is attempted. In addition to the small mandible, several other features of these patients contribute to the difficult laryngoscopy: macroglossia, glossoptosis, trismus related to temporomandibular joint abnormalities, and prominent maxilla or maxillary incisors. Most of the techniques that have been described for laryngoscopy/intubation in problem cases are difficult or impossible to use in infants and young children with mandibular hypoplasia. We present a modification of the standard direct laryngoscopic procedure, utilizing the 9-cm anterior commissure laryngoscope and an optical stylet in the task of exposing and intubating the larynx of a child with mandibular hypoplasia.

scholarly journals Mild Form of Treacher Collins Syndrome Imitating Juvenile Otosclerosis

2012 ◽  
Vol 2012 ◽  
pp. 1-3
Author(s):  
Karol Zeleník ◽  
Pavel Komínek
Keyword(s):  
Early Childhood ◽  
Hearing Loss ◽  
Middle Ear ◽  
Developmental Disorder ◽  
Conductive Hearing Loss ◽  
Treacher Collins Syndrome ◽  
Mild Form ◽  
Ear Anomalies ◽  
Conductive Hearing ◽  
Surgical Corrections

Treacher Collins syndrome (TCS) is an inherited developmental disorder. More than 40% of individuals with TCS have conductive hearing loss attributed to external and middle ear anomalies. Mild cases of TCS often pass undiagnosed at birth or early childhood. The disease may be manifested as conductive hearing loss in teenagers and may resemble juvenile otosclerosis. Patients could suffer from slight facial variabilities including retrognathia (as in our case) and others, which point out to a possible middle ear anomaly. Surgical corrections of middle ear anomalies including TCS generally lead to poorer outcomes comparing with juvenile otosclerosis, which should be discussed with parents during preoperative counselling.

scholarly journals Hemifacial Microsomia (HFM) and Treacher Collins Syndrome

2021 ◽  
pp. 1769-1812
Author(s):  
Manikandhan Ramanathan
Keyword(s):  
The Body ◽  
Treacher Collins Syndrome ◽  
Abnormal Development ◽  
Hemifacial Microsomia ◽  
Dentofacial Deformities ◽  
Dentofacial Deformity ◽  
Branchial Arches ◽  
Assessment And Treatment ◽  
Maxilla And Mandible ◽  
Parental Counselling

AbstractHemifacial microsomia and Treacher Collins syndrome are two entities which arise as a consequence of abnormal development of first and second branchial arches in utero. As a result, these dentofacial deformities present with abnormal facies especially the maxilla and mandible. They may also occur as part of other syndromes and may involve other structures of the body. In this chapter, we have discussed the etiology, clinical features, radiological assessment and treatment planning of such cases. Special emphasis should be made on early diagnosis, challenges of airway management and feeding and parental counselling. Since the two deformities are largely considered to be non-progressive, early distraction plays an important role in correction of the dentofacial deformity in these patients.

scholarly journals Ear Surgery in Treacher Collins Syndrome

1995 ◽  
Vol 104 (1) ◽  
pp. 31-41 ◽  
Author(s):  
Henri A. M. Marres ◽  
H. M. A. Marres ◽  
W. R. J. Cremers ◽  
Patrick L. M. Huygen
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Conductive Hearing Loss ◽  
Branchial Arch ◽  
Treacher Collins Syndrome ◽  
Ear Surgery ◽  
Arch System ◽  
Conductive Hearing ◽  
Outcome Of Surgery ◽  
Insight Into

The autosomal dominant hereditary Treacher Collins syndrome manifests itself phenotypically in dysmorphogenesis of particularly the first, but also the second branchial arch system. Consequently, 50% of patients with Treacher Collins syndrome have a congenital, generally pure conductive hearing loss resulting from a major or minor ear anomaly. The outcome of surgery to improve patients' hearing varies and is sometimes even disappointing. Thorough analysis of 33 cases (39 operated ears) and the strict application of a classification for the anomaly to each ear enabled us to gain insight into the most suitable surgical policy and to form a prognosis for reconstructive ear surgery.

Ear Anomalies

2019 ◽  
pp. 63-68
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Maternal Diabetes ◽  
Recurrence Risk ◽  
Treacher Collins Syndrome ◽  
Background Information ◽  
Hemifacial Microsomia ◽  
Mendelian Disorders ◽  
Organ Systems ◽  
Common Causes ◽  
Incidence Risk ◽  
Ear Anomalies

This chapter reviews background information about the incidence, risk factors, genetics, recurrence risk, family history and epidemiology of isolated and syndromic ear anomalies. The discussion on the differential diagnosis of ear anomalies summarizes its common causes, including teratogenic agents (isotretinoin, maternal diabetes, mycophenylate), chromosome anomalies (aneuploidy, 22q11 deletion), common sporadic multiple congenital anomaly syndromes (Hemifacial microsomia/Goldenhar), and Mendelian disorders that are primarily craniofacial (Treacher-Collins and other mandibulofacial dysostoses) and others that include malformations in other organ systems (CHARGE). The chapter gives recommendations for evaluation and management. A clinical case presentation features a child with mycophenylate embryopathy, who had been incorrectly diagnosed with Treacher Collins syndrome.

The Birmingham bone anchored hearing aid programme: paediatric experience and results

1996 ◽  
Vol 110 (21) ◽  
pp. 21-29 ◽  
Author(s):  
R. H. Powell ◽  
S. P. Burrell ◽  
H. R. Cooper ◽  
D. W. Proops
Keyword(s):  
Hearing Loss ◽  
Otitis Media ◽  
Hearing Aid ◽  
Treacher Collins Syndrome ◽  
Chronic Suppurative Otitis Media ◽  
Congenital Hearing Loss ◽  
Suppurative Otitis Media ◽  
Subjective Data ◽  
Bone Anchored Hearing Aid

AbstractOver a five-year period, 34 patients have been referred to the Birmingham bone anchored hearing aid programme, paediatric section, of whom 21 are now wearing the bone anchored hearing aid (BAHA) and four are awaiting surgery for fitting of the BAHA. Of the patients assessed, found to be suitable and who proceeded to surgery for the BAHA, 44 per cent had Treacher Collins syndrome, 28 per cent had bilateral atresia or microtia, 16 per cent had Goldenhaar's syndrome, four per cent (one patient) had branchio-oto-renal syndrome and eight per cent had chronic suppurative otitis media. This paper presents objective and subjective data collected from these patients. It is shown that the BAHA is a very effective hearing aid for children with congenital hearing loss.

scholarly journals Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics

2018 ◽  
Vol 07 (01) ◽  
pp. 001-008 ◽  
Author(s):  
John Gettelfinger ◽  
John Dahl
Keyword(s):  
Hearing Loss ◽  
Birth Defects ◽  
Alport Syndrome ◽  
Neurofibromatosis Type ◽  
Treacher Collins Syndrome ◽  
Congenital Hearing Loss ◽  
Pendred Syndrome ◽  
Wide Range ◽  
Syndromic Hearing Loss

AbstractCongenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF.

scholarly journals Hearing Loss in Treacher-Collins Syndrome

2021 ◽  
Vol 51 (1) ◽  
Author(s):  
Fezzan Athama Fuadi ◽  
W Wijana
Keyword(s):  
Hearing Loss ◽  
Ossicular Chain ◽  
Treacher Collins Syndrome ◽  
Ear Surgery ◽  
Main Complaint ◽  
Sensory Neural ◽  
The Right ◽  
Facial Development ◽  
Conductive Hearing

Abstract Treacher Collins Syndrome is a craniofacial disorder that has dominant autosomal disorder in facial development, found 1 in every 50,000 births. The common manifestations can be mandibulofacial disorder, microtia, atresia of the ear canal, and hearing loss. This syndrome is also accompanied by malformations of the ossicular chain of bone in the middle ear, which can lead to conductive hearing loss up to 50% of cases and sensory neural hearing loss. The aim of this report was to present one case of Treacher-Collins Syndrome at the Audiology - Vestibular clinic Dr. Hasan Sadikin General Hospital Bandung. The main complaint of the patient is micrognathia and microtia with hearing loss in both ears. The right ear is smaller than the left ear, and supported to 2nd grade of Microtia. The patient had performed reconstruction ear surgery in the right ear, and had improvement from audiological examination after the 2nd stage of reconstruction. There was TCOF 1 gene mutation involved from this case. Conclusion: Treacher Collins syndrome is a rare inherited disorder, but the diagnose can be easily enforced. Early intervention with hearing rehabilitation, audio-verbal rehabilitation, and reconstruction ear surgery must be carried out for a better quality of life. Keyword : Treacher collins syndrome, micrognathia, microtia, hearing loss

Speech and voice rehabilitation in selected patients fitted with a bone anchored hearing aid (BAHA)

1996 ◽  
Vol 110 (21) ◽  
pp. 47-51 ◽  
Author(s):  
Julie Thomas
Keyword(s):  
Hearing Loss ◽  
Speech Therapy ◽  
Conductive Hearing Loss ◽  
Treacher Collins Syndrome ◽  
Voice Rehabilitation ◽  
Osseointegrated Implant ◽  
Spontaneous Improvement ◽  
Bone Anchored Hearing Aid ◽  
Characteristic Features ◽  
Conductive Hearing

AbstractWithin the Birmingham osseointegrated implant programme there have been several patients with severe pre-lingual conductive hearing loss. The majority of these have been patients with Treacher Collins syndrome.There are characteristic features of speech and voice in those with long-standing conductive hearing loss. In addition, the associated abnormalities of jaw, teeth and palate may amplify the problem. There may be spontaneous improvement in features such as voice pitch, quality and intensity following the fitting of a BAHA. However, in those with a pre-lingual hearing impairment, speech therapy may be necessary. Patients assessed as suitable for BAHA have a full assessment of communication skills including audio recording of speech and voice. Post-operative training improves auditory discrimination and perception and is followed by training in the production of the newly perceived speech sounds.

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