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Objectives: Our objective was to reinforce clinical knowledge of hearing impairment in KBG syndrome. KBG syndrome is a rare genetic disorder due to monoallelic pathogenic variations of ANKRD11.The typical phenotype includes facial dysmorphism, costal and spinal malformation and developmental delay. Hearing loss in KBG patients has been reported for many years, but no study has evaluated audiological phenotyping from a clinical and an anatomical point of view., Methods: This French multicenter study included 32 KBG patients with retrospective collection of data on audiological features, ear imaging and genetic investigations., Results: We identified a typical audiological profil in KBG syndrome: conductive (71%), bilateral (81%), mild to moderate (84%) and stable (69%) hearing loss, with some audiological heterogeneity. Among patients with an abnormality on CT imaging (55%), ossicular chain impairment (67%), fixation of the stapes footplate (33%) and inner-ear malformations (33%) were the most common abnormalities., Conclusion: We recommend a complete audiological and radiological evaluation and an ENT-follow up in all patients presenting with KBG Syndrome. Imaging evaluation is necessary to determine the nature of lesions in the middle and inner ear., Competing Interests: Declaration of competing interest Authors declare none., (Copyright © 2023 Elsevier B.V. All rights reserved.)

Objective: To evaluate in children the clinical severity and evolution of otogenic lateral sinus thrombosis (OLST) due to Fusobacterium necrophorum compared with other bacterial otogenic thrombosis and propose a specific management flowchart for Fusobacterium OLST., Design: A retrospective multicentre cohort study., Settings: Four French ENT paediatric departments., Participants: A total of 260 under 18 years old admitted for acute mastoiditis were included. Initial imaging was reviewed to focus on complicated mastoiditis and 52 OLST were identified. Children were then divided into two groups according to bacteriological results: 28 in the "OLST Fusobacterium group" and 24 in the "OLST other bacteria group"., Results: There was a significant association between F necrophorum and OLST (P < .001). When compared to the OLST other bacteria group, children in the OLST Fusobacterium group were significantly younger (61 months vs 23 months, P < .01) and had a more severe clinical presentation: higher CRP (113 mg/L vs 175.7 mg/L, P = .02) and larger subperiosteal abscess (14 mm vs 21 mm, P < .01). Medical management was also more intensive in the OLST Fusobacterium group than in the OLST other bacteria group: increased number of conservative surgeries (66.7% vs 92.9%, P = .03) and longer hospital stay (13.7 days vs 19.8 days, P = .02). At the end of follow-up, the clinical course was good in both groups without any neurological sequelae., Conclusions: Thrombotic complications are very frequent in case of Fusobacterium mastoiditis and clinicians should be aware of the initial severity of the clinical presentation. Under appropriate management, the clinical course of Fusobacterium OLST is as good as that of other bacterial otogenic thrombosis., (© 2019 John Wiley & Sons Ltd.)

Trismus is a frequent complication occurring after treatment of tumors of the pterygomaxillary fossa. Local flaps and full-thickness skin grafts fail to release it because they usually lead to scar contracture in previously irradiated tissues. We propose to release it with a thoracodorsal artery perforator flap, which is feasible in children like other perforator flaps. It is interesting because it is thinner than the anterolateral thigh flap and its scar may be less disgraceful and easier to hide., (Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.)

Background: To evaluate a strategy whereby extensive surgery ± external radiotherapy (RT) could improve local control in pterygopalatine/infratemporal fossa (PIF) sarcoma., Procedure: Forty-one patients with a diagnosis of sarcoma involving the PIF and referred to our Institute from 1984 to 2009 were included in the analysis. Patients received multidrug chemotherapy and radiotherapy ± surgery, depending on the period of treatment., Results: The median age at diagnosis was 7.6 years (range: 0.1-22 years). There were 36 RMS, 3 undifferentiated sarcoma and 2 other soft-tissue sarcomas. Sixty-eight percent of patients had meningeal risk factors at diagnosis. Local treatment consisted of RT alone in 19 patients, surgery in combination to RT in 19 patients and surgery alone in 3 patients. The local progression rate (LPR) at 5 years was 45% for the entire population, 59% for the 19 patients treated with RT alone and 34% for the 22 patients who had surgery as part of their treatment. All locoregional failures after extensive surgery occurred at the skull base and/or in leptomeningeal spaces., Conclusions: Multidisciplinary approach including extensive surgery for PIF sarcoma is feasible and yields good local control with 15/22 patients in local complete remission. Future studies are warranted to confirm these promising results, to evaluate the possibility of avoiding RT or limiting the RT field, and to extend the indication for extensive surgery to other "worse" sites of PM sarcoma such as the paranasal sinuses., (Copyright © 2013 Wiley Periodicals, Inc.)

Congenital bronchial stenosis is a very rare cause of neonatal dyspnea. Surgical management remains challenging in small children. We report successful implantation of a bronchial stent in a 3-month-old female infant presenting with congenital right bronchial stenosis and 18 months of follow-up. Use of stents in children remains controversial because of the problem of size mismatch as the child grows. Nevertheless, expandable stent implantation could be an interesting alternative to complex surgery for localized bronchial stenosis in neonates., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Objective: Cryopyrin-associated periodic syndromes (CAPS) are a group of rare autoinflammatory diseases. Neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic, cutaneous, articular syndrome (CINCA syndrome) is the most severe phenotype, with fever, rash, articular manifestations, and neurologic and neurosensory involvement. CAPS are caused by mutations in CIAS1, the gene encoding NLRP3, which plays a critical role in interleukin-1 (IL-1) processing. Anakinra, an IL-1 receptor antagonist, has been shown to be an effective treatment; however, data on long-term efficacy and safety have been sparse. This study was undertaken to assess the long-term efficacy and safety of anakinra treatment in patients with NOMID/CINCA syndrome., Methods: We retrospectively analyzed the medical records of NOMID/CINCA syndrome patients referred to 2 centers, who had started anakinra treatment before June 2007., Results: There were 10 patients with NOMID/CINCA syndrome who had been treated with anakinra. The patients' ages at the time anakinra treatment was initiated ranged from 3 months to 20 years. They had been followed up for 26-42 months. Sustained efficacy in the treatment of systemic inflammation and, in some cases, neurologic involvement and growth parameters, was achieved. The dosage of anakinra required for efficacy ranged from 1 to 3 mg/kg/day in the 8 oldest patients and from 6 to 10 mg/kg/day in the 2 youngest. Residual central nervous system inflammation and deafness persisted in some patients, especially if there had been a delay in diagnosis and treatment. Secondary amyloidosis persisted in cases in which it was present at treatment initiation, but no new lesions developed. No effect on overgrowth arthropathy was observed. Adverse events consisted of mild injection-site reactions., Conclusion: The present results indicate that anakinra treatment is effective over the long term in NOMID/CINCA syndrome. However, treatment has to be initiated before irreversible lesions develop, and, particularly in very young patients, dosage adjustment is required.