Multicenter Study of Congenital Middle Ear Anomalies. Report on 246 Ears.

OBJECTIVES/HYPOTHESIS: Congenital middle ear anomalies represent a relatively rare condition. This study aimed to describe the characteristics and the surgical outcomes for patients with middle ear anomalies. METHODS: A multicenter study was conducted of consecutive patients with congenital middle ear anomalies who underwent primary surgical treatment between January 2008 and December 2017. Demographics, surgical procedures, and audiometric data were registered into the institutional database. Hearing changes and postoperative air-bone gap (ABG) were evaluated 1 year after surgery. RESULTS: A total of 246 patients (246 ears) (median age: 14 years, range: 4-75 years old) were included in this study. Anomalies were subdivided using the Teunissen and Cremers classification: 53 ears (22%) were categorized as class I, comprising only stapes ankylosis; 35 ears (14%) as class II, having ossicular chain anomalies with stapes ankylosis; 139 ears (57%) as class III, having ossicular chain anomalies with a mobile stapes-footplate; and 19 ears (8%) as class IV, with aplasia of the oval window. Evaluation of hearing outcomes for 198 ears with more than 1 year of follow-up revealed that good postoperative ABG (≤20 dB) was achieved in 82% of class I, 68% of class II, 74% of class III, and 23% of class IV anomalies. The postoperative ABG in class IV was significantly worse than in class I (P < .001) or class III (P < .01). CONCLUSIONS: This study demonstrated that class III anomalies comprised the majority of middle ear anomalies and surgical outcomes for class IV anomalies are unfavorable. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:E2323-E2328, 2021.

Congenital Stapes Ankylosis in Children: Surgical Findings and Results in 35 Cases.

OBJECTIVE: To evaluate surgical findings and hearing results in children undergoing middle ear surgery for congenital stapes ankylosis with or without other ossicular malformations (Teunissen and Cremers class I and class II malformations). STUDY DESIGN: A nonrandomized, nonblinded case series of prospectively collected data. SETTING: A tertiary referral center. PATIENTS: Twenty-eight consecutive pediatric patients who underwent 35 surgical procedures for congenital stapes ankylosis with or without other ossicular malformations and had available postoperative pure-tone audiometry. INTERVENTION: Primary stapedotomy with vein graft interposition and reconstruction with a Teflon piston, bucket handle prosthesis or total ossicular replacement prosthesis. MAIN OUTCOME MEASURES: Pre- and postoperative audiometric evaluation using four-frequency (0.5, 1, 2, and 4 kHz) audiometry. Air-conduction thresholds, bone-conduction thresholds, and air-bone gaps (ABGs) were measured. Postoperative audiometry was performed at 3, 6, 9, 12, 18, and 24 months after surgery and at a yearly interval thereafter. RESULTS: Overall, a postoperative ABG closure of 10 dB or less was achieved in 73% of class I cases and in 50% of class II cases. A postoperative ABG closure of 20 dB or less was achieved in 77% of class I cases and 67% of class II cases. Postoperative sensorineural hearing loss occurred in one class I case (4%) and none of the class II cases. CONCLUSION: Stapedotomy is a safe and feasible treatment option in children with congenital stapes ankylosis.

A medical student with symphalangism, would it affect her future career?

Absence of the distal crease of the fingers is usually associated with a flexion deformity. A single crease of one or more fingers is found in many syndromes. We present this report as a rare case of absence of interphalangeal crease of the right ring finger with restriction of flexion but without any other anomaly.

Congenital infiltrating lipomatosis of the face with associated involvement of the TMJ structures. Case report and review of the literature.

We report a case of congenital infiltrating lipomatosis of the face (CILF) with right TMJ ankylosis causing asymmetry and reduced mouth opening. The management involved soft tissue debulking combined with a right TMJ arthroplasty and is explained in detail. A review of the relevant literature revealed the rarity of this condition. The diagnosis of CILF remains challenging. The currently accepted treatment strategy is less aggressive as facial asymmetry tends to recur. Infiltration of the facial structures from adipose tissue requires several surgical procedures in most cases. Bony hypertrophy on the affected side has been a common finding in reported cases. There have been no previous reports of TMJ ankylosis associated with this condition. CILF is a benign condition with a good long term prognosis. After 2 years of follow up our patient, has maintained full function despite facial asymmetry.

Congenital stapes ankylosis associated with another ossicular chain anomaly: surgical results in 30 ears.

OBJECTIVE: To describe the audiometric results after stapes surgery in a consecutive series of patients with stapes footplate ankylosis combined with another ossicular middle ear anomaly. STUDY DESIGN: A retrospective analysis of charts collected between 1986 and 2001. SETTING: A tertiary referral center. PATIENTS: A total of 25 patients (30 ears) underwent exploratory tympanotomies and ossicular reconstruction. MAIN OUTCOME MEASURE: Audiometric results. RESULTS: Overall, a mean gain in air conduction of 18 dB (from 49 dB to 31 dB) and a mean postoperative air-bone gap (ABG) of 20 dB (mean preoperative ABG, 40 dB) were observed. The ABG closure was 20 dB or less in 70% of cases, which is in agreement with the few results reported in the literature. Moreover, the audiometric results remained stable. In the group of ears with a syndrome, the mean gain of air conduction was only 19 dB, which was comparable to that observed among nonsyndromic ears. CONCLUSIONS: Surgery for congenital stapes footplate ankylosis with a concomitant ossicular chain anomaly can provide worthwhile hearing improvement. The ABG closure was 20 dB or less in 21 of 30 ears (70%). Most ears had some sensorineural impairment (10-20 dB), which influenced the final hearing level after surgery. Over recent decades, the technique of the malleostapedotomy procedure has been improved. Preoperative assessment is mandatory for syndromal diagnoses, which might be important for patient counseling and prognosis.

Isolated congenital stapes ankylosis: surgical results in a consecutive series of 39 ears.

OBJECTIVES: We describe the audiometric results after stapes surgery in a consecutive series of patients with isolated stapes footplate ankylosis. METHODS: We performed a retrospective analysis of charts from 1986 to 2001 in a tertiary referral center, focusing on audiometric results. RESULTS: A total of 28 patients (39 ears) underwent stapedotomy or stapedectomy, and 5 patients (5 ears) had a syndromal diagnosis. Overall, we observed a mean gain in air conduction threshold of 21 dB (from 46 to 25 dB) and a mean postoperative air-bone gap of 14 dB (mean preoperative air bone gap, 36 dB). The postoperative air-bone gap was 10 dB or less in 46% of cases, in agreement with results reported in the literature. Moreover, the audiometric results remained stable. In the group of ears with a syndrome, the mean gain in air conduction threshold was only 12 dB (range, -13.8 to 32.5 dB), which was a worse outcome than that in the nonsyndromic ears. CONCLUSIONS: Surgery for isolated congenital stapes footplate ankylosis provides satisfactory audiometric outcomes. The postoperative air-bone gap was 10 dB or less in 18 of the 39 ears (46%) and 20 dB or less in 29 of the 39 ears (74%). Most ears had some sensorineural impairment (10 to 20 dB), which influenced the final hearing level after surgery. Preoperative assessment is mandatory to search for syndromal diagnoses, which might be important for patient counseling and prognosis.

Congenital syngnathia: case report and review of literature.

Congenital bony fusion of the maxilla and mandible, especially as an isolated occurrence, is a very rare condition. The very few cases reported in the literature are mostly inadequate in description and confusing in nomenclature. An isolated case of syngnathia in a 60-year-old female patient with unilateral bony fusion (synostosis) of the maxilla and mandible associated with fibrous adhesions (synechiae) of the opposite site is reported. The existent literature is also reviewed.

Congenital bony fusion (absence) of the knee: a case report.

Congenital knee ankylosis is a rare condition which might be accompanied with other abnormalities or not. To our knowledge, there is no report on true bony ankylosis of the knee. The only ones in the literature include fibrous knee ankylosis. Thus this seems to be the first presentation of true congenital bony fusion of the knee joint.

Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis.

HYPOTHESIS: Molecular genetic testing is useful to differentiate otosclerosis from syndromic stapes ankylosis. BACKGROUND: Congenital stapes ankylosis is genetically heterogeneous. Mutations in the NOG gene are known to be associated with a variety of rare stapes ankylosis syndromes including stapes ankylosis with broad thumbs and toes, multiple synostoses syndrome, and proximal symphalangism. These syndromes have overlapping clinical features that may be unrecognized. METHODS: The proband was a 54-year-old woman diagnosed in childhood with bilateral maximal conductive hearing loss. Audiologic, medical, and surgical records were reviewed. Deoxyribonucleic acid (DNA) was obtained from peripheral lymphocytes. DNA sequencing was used to assay for mutations in the NOG gene. RESULTS: Clinical genetics evaluation was most consistent with proximal symphalangism, but features of multiple synostoses syndrome were identified as well. DNA sequencing revealed a heterozygous p.W205C mutation in the NOG gene, not found in 100 controls. CONCLUSION: Evaluation of the patient with stapes ankylosis should include a family history and specific inquiry into features associated with stapes ankylosis syndromes, such as bony anomalies of the spine, hands, and feet. However, a negative family history does not exclude the possibility of a syndrome. Many patients who are thought to have nonsyndromic otosclerosis actually have syndromes caused by mutations in the NOG gene. Identifying a syndrome has implications for surgical management and prognosis.

Management of congenital bilateral temporomandibular joint ankylosis with secondary mandibular hypoplasia.

The aim of this article is to present the course of the condition in a case of congenital temporomandibular joint ankylosis that caused facial disfigurement, significant reduction of mouth opening, difficulty in feeding and breathing, and general interference with physical development.

Craniofacial characteristics evidenced in Bartsocas-Papas syndrome from birth to five years. Case report.

Bartsocas-Papas Syndrome (BPS) is a rare congenital disorder, first described in 1972. It is usually characterized by neonatal or intrauterine death, and, as such, only 26 cases have been reported. Physical manifestations such as antecubital and popliteal pterygia (webbing), syndactyly of fingers, toes and talipes are frequently reported. However, oral, facial, cranial and dental anomalies are often overlooked. This case focuses on the latter anomalies and the effect they have on the facial growth of a 5-year-old patient.

Congenital stapes ankylosis: study of 28 cases and surgical results.

OBJECTIVE: The objective of this study was to analyze functional results after stapes surgery in patients with congenital nonprogressive conductive deafness resulting from an isolated fixation of the stapes according to age and surgical procedure. STUDY DESIGN: The authors conducted a retrospective case series from March 1993 to December 2003 in patients from two tertiary referral centers. METHODS: Twenty-eight patients were operated on by stapedotomy or partial stapedectomy using Teflon stapes prostheses. The median age at surgery was 14.2 years (range, 8.3-29.1 years). Main outcome measures were clinical and audiometric evaluation before and after surgery. Mean air conduction (MAC) and bone conduction (MBC) thresholds were recorded at 0.5, 1, 2, and 4 kHz. The evaluation of functional outcome was based on the MAC gain, the MBC comparison, and the mean postoperative and residual air-bone gaps. RESULTS: The median preoperative MAC was 50 dB (range, 19.0-65.0 dB) with a 35.0 dB median dB air-bone gap. With a mean follow up of 19 months, postoperative hearing improvement was statistically significant: median gain of 32.5 dB (P<.001) and median residual air-bone gap of 3.5 dB. The MBC was also statistically improved with median pre- and postoperative MBC of 11.5 and 6.5 dB, respectively (P<.001). Results were not dependent on the age group or type of surgery (stapedotomy or partial stapedectomy). No perceptive hearing loss was observed despite one gusher case. CONCLUSION: Surgical treatment of isolated congenital stapes ankylosis allows good functional results regardless of age or type of surgery.

Temporomandibular joint bony ankylosis: comparison of treatment with transport distraction osteogenesis or the matthews device arthroplasty.

Temporomandibular joint (TMJ) bony ankylosis with micrognathia is a rare congenital condition that is difficult to treat and may result in recurrence. In a series of affected patients, we compared two new methods of treatment: transport distraction osteogenesis and Matthews Device arthroplasty. All patients had computed tomography scan documented bilateral TMJ bony ankylosis. Group I (transport distraction osteogenesis) underwent distraction advancement of the mandible (for micrognathia) followed by resection of the condyles, recontouring of the glenoid fossas with interposition temporoparietal-fascial flaps, and transport distraction osteogenesis of mandibular rami segments. Group II (Matthews Device arthroplasty) underwent all of the above procedures except for transport distraction osteogenesis. Instead, the Matthews Devices were anchored to the temporal bone and mandibular rami. Hinged arms allowed for motion at the reconstructed TMJ. In both groups, patients underwent extensive postoperative therapy. Preoperative, postoperative, and follow-up lateral cephalograms were obtained, and incisor opening distances were recorded. All patients but one had severe micrognathia (n = 9). For group I (transport distraction osteogenesis), mean age was 6.8 years. and mean advancement was 28.5 mm. For group II (Matthews Device arthroplasty) mean age was 8.2 years, and mean advancement was 23.5 mm. In group I (transport distraction osteogenesis), mean incisor opening was 1 mm preoperatively and 27.5 mm postoperatively; however, it relapsed to 14.3 mm by 12.5 months follow-up (48% relapse). Mean incisor opening in group II (Matthews Device arthroplasty) was 3.9 mm preoperatively and 33.4 mm postoperatively and remained at 30.6 mm after 11.1 months follow-up (8% relapse). One patient in group I (transport distraction osteogenesis) underwent surgical revision because of relapse. Our data showed that for congenital TMJ bony ankylosis both transport distraction osteogenesis and Matthews Device arthroplasty techniques were successful initially; however, the Matthews Device arthroplasty avoided long-term relapse.

Severe proliferative congenital temporomandibular joint ankylosis: a proposed treatment protocol utilizing distraction osteogenesis.

The classical treatment for temporomandibular joint (TMJ) ankylosis in children: 1) joint release; 2) arthroplasty; 3) reconstruction; and 4) postoperative physical therapy (PT), is often unsuccessful. Postoperative physical therapy is difficult in the young patient due to poor cooperation. Moreover, there is a subgroup of patients who have a refractory congenital proliferative bony process that is the cause of their disease. In these patients, a role for distraction osteogenesis (DO) has been defined. We present a series of young patients with congenital proliferative TMJ ankylosis. Some have failed classic treatment. In such cases, DO is used to expand the mandibular size and soft tissue matrix. This creates a static open bite, facilitates mid-facial growth, and avoids compromise of the airway, speech, nutrition, and oral hygiene. To maintain these objectives, mandibular DO may be repeated as the child matures. Once skeletal maturity is reached, DO is used to normalize occlusion and further expand the soft tissue envelope prior to definitive reconstruction and aggressive post-op PT. In seven patients, this protocol has been used. Five patients are currently in the active phase of growth and undergoing interim treatment with mandibular DO. Two patients have reached skeletal maturity and have completed the protocol of DO with definitive arthroplasty and reconstruction. DO is a valuable aid in the treatment of the problematic child with congenital proliferative TMJ ankylosis. Interim DO, prior to definitive arthroplasty and reconstruction, can provide a static open bite that prevents progressive deformity and its associated functional disturbances.

Congenital temporomandibular joint ankylosis: clinical characterization and natural history of four unrelated affected individuals.

The objective of this study was to describe four unrelated patients affected by congenital temporomandibular joint ankylosis. Clinical delineation, natural history, and possible etiologies are discussed. Clinical aspects that are important for follow-up are outlined.

Congenital absence (ankylosis) of the knee.

A congenital, unilateral, fixed flexion deformity in a neonate was diagnosed as a congenital absence of the knee. A single cartilage mass, with fusion of the lower femoral and upper tibial ossification centres, was demonstrated by imaging studies. This condition has been reported in the literature only once before. Surgery on our patient, which was performed at the age of two years, consisted of separation of the fused cartilaginous anlage and gradual correction of the deformity using an Ilizarov frame.

Acute respiratory distress in Pena-Shokeir syndrome.

Pena-Shokeir syndrome is a rare, autosomal-recessive disorder that usually affects newborns. Its etiology is poorly understood. Pena-Shokeir syndrome is defined by camptodactyly, multiple ankyloses, pulmonary hypoplasia, and various facial anomalies. These manifestations are usually severe, and death generally occurs at birth or shortly thereafter. We describe a case of Pena-Shokeir syndrome in a 9-year-old girl of above-normal intelligence who presented with life-threatening airway distress. To the best of our knowledge, she is the oldest living individual with Pena-Shokeir syndrome, and the only such patient whose intelligence was not impaired. We discuss the acute management and subsequent care of this patient, who not only survived, but maintained excellent grades in school.

Consideraciones sobre la anquilosis congénita calcáneo-escafoidea / Considerations with regard to congenital ankylosis of the calcaneus and scaphoid

Los autores revisan la literatura sobre la fusión congénita calcáneo-escafoidea, llegando a la conclusión de que son relativamente numerosos los casos publicados. Por ello subrayan la importancia de tener en cuenta estos procesos en el estudio de los pies planos valgos dolorosos. Aportan dos casos: el primero, con fusión unilateral calcáneo-astrágalo-escafoidea, y el segundo, bilateral, con un puente de fusión óseo en un lado y fibroso en el otro. Los síntomas más frecuentes son: la deformidad del pie en plano valgo, dolor difuso del pie, sobre todo al cargar, pudiendo tener o no un punto selectivamente doloroso, contractura de los músculos del pie, dolor al apoyarse en el reborde posteroexterno o interno del talón y abolición de la pronosupinación del retropie.La causa de este proceso la consideran debida a una falta de desarrollo de los espacios intraarticulares que se labran en el esbozo cartilaginoso del feto a los dos meses.El tratamiento fisioterápico suele ser útil para los casos con sintomatología leve. Citan la operación de Bentzon, de sección del puente óseo con interposición de músculo. Para los casos con molestias intensas y continuas, opinan que el procedimiento de elección es la triple artrodesis (AU)