[The research progress of Treacher Collins syndrome].

Treacher Collins syndrome (TCS, OMIM 154500), also known as Franceschetti-Klein syndrome, is a rare disorder that affects the first and second branchial arches. The estimated incidence is 1/50 000 live births. Mutations in TCOF1 (78%-93%) and POLR1C or POLR1D (8%) cause the disease. Most of TCS cases are inherited in a dominant pattern, while a small proportion are inherited in a recessive pattern. TCS has a variable phenotype with typical clinical characteristics including downward-slant of palpebral fissure, malar hypoplasia, mandibular hypoplasia and microtia. TCS management is a multidisciplinary affair, as interventions range from reconstructive to psychosocial. For hearing rehabilitation, TCS patients may have the choices of BAHA, ponto, vibrant soundbridge or bonebridge implantation. In this review, we summarize the TCS clinical malformations, diagnosis, genetics, management and auditory rehabilitation.

Hearing rehabilitation with single-stage bilateral vibroplasty in a child with Franceschetti syndrome.

Hearing is of utmost importance for normal speech and social development. Even children who have mild or unilateral permanent hearing loss may experience difficulties with understanding speech, as well as problems with educational and psycho-social development. The increasing advantages of middle-ear implant technologies are opening new perspectives for restoring hearing. Active middle-ear implants can be used in children and adolescents with hearing loss. In addition to the well-documented results for improving speech intelligibility and quality of hearing in sensorineural hearing loss active middle-ear implants are now successfully used in patients with conductive and mixed hearing loss. In this article we present a case of successful, single-stage vibroplasty, on the right side with the fixation of the FMT on the stapes and PORP CLiP vibroplasty on the left side in a 6-year-old girl with bilateral mixed hearing loss and multiple dyslalia associated with Franceschetti syndrome (mandibulofacial dysostosis). CT revealed bilateral middle-ear malformations as well as an atretic right and stenotic left external auditory canal. Due to craniofacial dysmorphia airway and (post)operative, management is significantly more difficult in patients with a Franceschetti syndrome which in this case favoured a single-stage bilateral procedure. No intra- or postoperative surgical complications were reported. The middle-ear implants were activated 4 weeks after surgery. In the audiological examination 6 months after surgery, the child showed 100% speech intelligibility with activated implants on each side.

New closed skin bone-anchored implant: preliminary results in 6 children with ear atresia.

OBJECTIVE: To report preliminary results of a new closed-skin, transcutaneous bone conduction device (BCD) in 6 children with high-grade ear atresia. SETTINGS: Tertiary care center; prospective study; we evaluated the gain with masking of the contralateral ear and the benefit of hearing rehabilitation with the transcutaneous BCD in noise: speech-in-noise tests, conducted in real life condition (with contralateral ear unmasked and fitted with a hearing device if done before implantation), with and without BCD, with determination of the speech reception threshold (SRT). Children and parent's satisfaction was assessed. RESULTS: Patients' ages ranged from 6 to 9 years. All had high-grade ear atresia with a preoperative mean pure-tone average (PTA) loss of 71.46 +/- 6.59 dB on air conduction and 14 +/- 4.98 dB on bone conduction. At M6, all children used the implant 5 to 12 hours daily (mean, 10) without pain or cutaneous complications. At M6, the mean air conduction PTA with transcutaneous BCD was 28.45 +/- 1.68 dB, the mean gain 43 +/- 6.96 dB, and the mean SRT gain 33.33 +/- 10.75 dB. Using speech-in-noise tests in real-life conditions, the mean SRT was statistically improved with the transcutaneous BCD (-8 +/- 2.83 dB, p = 0.0313). Both children and parents reported being satisfied or very satisfied. CONCLUSION: These preliminary results show satisfactory functional gain, cutaneous tolerance, and patients' satisfaction with the new transcutaneous BCD.

Application of the Vibrant Soundbridge middle-ear implant for aural atresia in patients with Treacher Collins syndrome.

OBJECTIVE: To present results for the auditory rehabilitation of patients with Treacher Collins syndrome with bilateral osseous atresia, using middle-ear implantation with a Vibrant Soundbridge. METHODS: Three patients underwent vibroplasty for aural atresia with moderate to severe conductive hearing loss. The pre-operative Jahrsdoerfer radiological score was 4 for all patients. Patients underwent active middle-ear implantation of a Vibrant Soundbridge implant (coupling the floating mass transducer to the rudimentary stapes or footplate distally, and positioning it adjacent to the round window membrane proximally), with audiological analysis as follow up. RESULTS: After implant activation, the mean air conduction threshold ± standard deviation decreased to 22.8 ± 5.5 dB HL, representing a mean functional gain of 44.5 dB. The mean word recognition score (for bisyllabic words at 65 dB SPL) increased from 0 to 97 per cent. CONCLUSION: Vibrant Soundbridge implantation is an effective hearing rehabilitation procedure in patients with Treacher Collins syndrome with bilateral osseous atresia. This is a versatile implant which can achieve coupling even in cases of severe middle-ear malformation.

Síndrome de Treacher Collins: revisão de literatura / Tracher Collins syndrome: review of the literature

A Síndrome de Treacher Collins é um distúrbio hereditário caracterizado por anomalias e manifesta-se com diversas variáveis clínicas apresentando incidência aproximada de 1:40.000a 1:70.000 pessoas...

The Treacher Collins syndrome is a hereditary disorder characterized by craniofacial abnormalities and it has several different clinic presentations. Its incidence is around too 1:40.000 and 1. 70.000 habitants...

Orthodontic and surgical treatment of patients with congenital unilateral and bilateral mandibulofacial dysostosis.

AIM: Presentation of results following therapy of patients with different forms of mandibulofacial dysostosis. MATERIAL AND METHODS: Case reports of four patients, two with unilateral and two with bilateral mandibulofacial dysostosis, are presented. The symptoms and the problems involved in treatment are described. RESULTS: Protracted treatment resulted in improved facial symmetry, a harmonized profile, and acceptable occlusion. CONCLUSION: The rehabilitation of patients suffering from congenital facial malformations such as mandibulofacial dysostosis demands an experienced team of orthodontists and maxillofacial surgeons as well as persistence on the part of the patients and their families if good esthetic and functional results are to be achieved.

Craniofacial titanium implants and chronic pain: histologic findings.

OBJECTIVE: To determine whether histologic features or histomorphometric outcomes of retrieved craniofacial percutaneous titanium implants could be found that could be related to chronic pain at the implant site in the temporal bone. STUDY DESIGN: Histologic investigation and histomorphometric measurements of seven retrieved titanium implants with surrounding bone tissue. SETTING: Tertiairy referral center. PATIENTS AND METHODS: Four patients who had previously received percutaneous titanium implants for auricular prostheses (1 patient) and a bone anchored hearing aid (three patients) had chronic pain at the implant site despite conservative treatment. The implants were retrieved, sectioned, and ground for qualitative light microscopic inspection and quantitative measurement of the bone-to-metal contact and bone area. RESULTS: Qualitative inspection of the sections of the implants demonstrated soft tissue zones at the interface, especially under the flange. Inflammatory cells were seen in the interface in all seven implants. In the implants with good bone-to-metal contact, the percentage of bone-to-metal contact rose with time. In the two implants with poor bone-to-metal contact, the soft tissue zones were more extensive, and slightly more skin reactions were observed than in the other implants while still in situ. CONCLUSION: A clear explanation for the chronic pain is not at hand. The only common histologic findings were the inflammatory cells present in the interface, but with varying density, and the presence of soft tissue zones. A variety of bone-to-metal was found among the retrieved implants.

Bone-anchored hearing aid quality of life assessed by Glasgow Benefit Inventory.

OBJECTIVE/HYPOTHESIS: The bone-anchored hearing aid (BAHA) is a well established mode of treatment and many studies show the audiological benefit, but none has assessed the benefit to the quality of life of patients. This study uses the validated Glasgow Benefit Inventory to quantify the changes in quality of life. STUDY DESIGN: Retrospective questionnaire study. METHODS: Sixty consecutive patients receiving treatment with BAHA were enrolled in the study. The male/female ratio was 1.26 to 1; mean patient age was 45 years. The most common indication was hearing loss secondary to mastoid disease and surgery followed by congenital atresia and chronic discharge from the ear. RESULTS: The response rate was 85%, which is high and adds weight to the results. The general benefit score was +34 (range, +27-+48), which is comparable to middle ear surgery but just below benefit from cochlear implantation. The social benefit was +21 (range, +12-+37) with only +10 (range, +2-+26) for the physical score. This pattern mirrors that reported for other ear interventions. Maximum benefit was noted in patients with congenital atresias followed by discharging mastoid cavities. CONCLUSION: This study is the first to demonstrate significant quality of life benefit from BAHA surgical intervention as measured by the Glasgow Benefit Inventory.

First and second branchial arch syndrome: aspects on the embryogenesis, elucidations, and rehabilitation using the osseointegration concept.

BACKGROUND: The osseointegration concept has dramatically changed the possibility of rehabilitating patients with craniofacial defects due to branchial arch syndromes. PURPOSE: This article describes some problems related to the investigative routines and rehabilitation of individuals with malformations of the first and second branchial arches of the craniofacial region. Animal model systems have increased the knowledge of basic embryonic processes that can explain the extent of the malformations. Though most clinical first and second branchial arch syndromes are likely to be caused by sporadic mutations, inherited syndromes occur and also teratogenically induced syndromes are known. Prenatal diagnosis ruling out heredity and exogenous influence seems possible in the future. The possibility of preventing and alleviating fulminant syndromes prenatally also could be conceivable in the future. PATIENTS AND METHODS: The rehabilitation process starts early after birth and should involve a team of specialists including clinical geneticists, pediatricians, audiologists, plastic surgeons, maxillofacial surgeons, otosurgeons, anaplastologists, speech pathologists, pedodontists, and orthodontists. With the development of the osseointegration concept in which craniofacial prostheses and hearing aids can be adapted on implants anchored in the craniofacial skeleton, a new field in the rehabilitation of these malformations has opened. RESULTS: Important aspects in the use of the osseointegration concept include determination of the lowest age for implant surgery, accessibility of adequate bone for implants, the growth of the craniofacial skeleton during childhood, and the possibility for the patient and his or her parents to care for the skin penetration. Adverse tissue reactions, durability of craniofacial prostheses, and the possibility of unknown adverse reactions to metal implants in the body over a long time are other aspects of concern. CONCLUSIONS: Patients with branchial arch syndromes benefit from a well-planned multidisciplinary rehabilitation process in which osseointegrated bone-anchored hearing aids and bone-anchored ear prostheses can be useful tools.

Rehabilitation in Franceschetti syndrome: an interdisciplinary approach using bone-anchored hearing aids.

The purpose of the study was to determine the effectiveness of a concept of combined interdisciplinary rehabilitation for children with mandibulofacial dysostosis, developed at the Center for Facial Malformations. It consists of binaural implantation of bone-anchored hearing aids and gradual distraction of the mandible. After audiological testing and mandibular distraction on a phantom head designed with data from a spiral CT, the surgery was done in three steps: implanting the fixtures for BAHA and the bone-lengthening device, removing the device after six weeks and completing the BAHA implantation two months later. The distraction procedure and orthodontic treatment were performed on an outpatient basis. The results (six patients, ages 6-19 years) were excellent: after implantation of the BAHA system speech perception increased from approximately 85% with the conventional BCHA to 95-100% with the BAHA. Quality of life was reported to be much better because of the general cosmetic improvement as well as the good acoustic orientation and sound quality with the new hearing devices. We conclude that the interdisciplinary approach provides favorable conditions for rehabilitation in cases of complex malformations of the head and neck.

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

Over a five-year period, 34 patients have been referred to the Birmingham bone anchored hearing aid programme, paediatric section, of who 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-otorenal 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.

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

With 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.

Goldenhar's syndrome: a case study.

Goldenhar's Syndrome, a rare symptom complex involving craniofacial and vertebral malformations, is reviewed and a detailed case history of a 19-mo-old exhibiting the syndrome is described. This multiple-problem child exhibited a 6-mo deficit in communication skills at 12 mo of age. After 6 mo of participation in a multidisciplinary early intervention program, including speech-language therapy, the child exhibits normal language although he has articulation problems consistent with his craniofacial defects.

The effect of syndrome diagnosis on speech remediation.

On the basis of work reported by colleagues, as well as our own clinical research studies of patients with the aforementioned syndromes, there are now some useful guidelines for appropriate remediation based on accurate initial diagnosis. Still, there is more to be learned about each of these syndromes. Furthermore, they represent but a small sample of a very large total. Recent literature has described the speech patterns of many more syndromes, as well as the genetic aspects of the more common speech and language disorders such as language delay, dyslexia, autism, and stuttering [72-78]. The most common recognizable birth defect is Down syndrome and there is, fortunately, a large body of information detailing the varied language, speech, and hearing aspects [79]. Those of us who work with children with Down syndrome have been alerted to the anticipated receptive and expressive language delays; the conductive and sometimes mixed hearing losses; the hoarse and raucous voices that are probably the result of a combination of anatomic, neurologic, and mucosal variations; the interesting disfluencies, and the amalgam of developmental and deviant articulatory errors. We know that although the tongue protrudes, it is rarely the true macroglossia which we would find in Beckwith syndrome, for example, but rather a hypotonic posture and a logical adaptation to an airway restricted by enlarged tonsils and adenoids and recurrent rhinitis.