TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.

Congenital hydrocephalus, characterized by cerebral ventriculomegaly, is one of the most common reasons for paediatric brain surgery. Recent studies have implicated lin-41 (lineage variant 41)/TRIM71 (tripartite motif 71) as a candidate congenital hydrocephalus risk gene; however, TRIM71 variants have not been systematically examined in a large patient cohort or conclusively linked with an OMIM syndrome. Through cross-sectional analysis of the largest assembled cohort of patients with cerebral ventriculomegaly, including neurosurgically-treated congenital hydrocephalus (totalling 2697 parent-proband trios and 8091 total exomes), we identified 13 protein-altering de novo variants (DNVs) in TRIM71 in unrelated children exhibiting variable ventriculomegaly, congenital hydrocephalus, developmental delay, dysmorphic features and other structural brain defects, including corpus callosum dysgenesis and white matter hypoplasia.

A 22q13.1 duplication in mosaicism including SOX10.

Waardenburg syndrome (WS) is characterized by the association of sensorineural hearing loss and pigmentation abnormalities. Among the four types, WS Type 2 (WS2) is the only one without a remarkable distinguishing feature. Here, we report a patient initially diagnosed with WS2 who exhibits a 446 kb mosaic duplication in chromosome 22q13.

Performance of Non-EPI DW MRI for Pediatric Cholesteatoma Follow-Up.

Objective: To evaluate the accuracy, sensitivity, and specificity of nonecho planar (non-EPI) diffusion-weighted (DW) magnetic resonance imaging (MRI) to detect residual cholesteatoma in children.

Study Design: Retrospective study.

Setting: Tertiary comprehensive hospital.

Investigating genotype-to-phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering.

CHARGE syndrome, due to CHD7 pathogenic variations, is an autosomal dominant disorder characterized by a large spectrum of severity. Despite the great number of variations reported, no clear genotype-to-phenotype correlation has been reported. Unsupervised machine learning and clustering was undertaken using a retrospective cohort of 42 patients, after deep radiologic and clinical phenotyping, to establish genotype-phenotype correlation for CHD7-related CHARGE syndrome.

Mycobacterium canettii Tuberculosis Lymphadenopathy in a 3-Year-old Child.

A 3-year-old male originating from Djibouti presented with a cervical mass evolving for 2 months. Tuberculous lymphadenopathy was suspected based on biopsy results, and he improved quickly on standard antituberculous quadritherapy. Subsequently some features of the mycobacterium that grew in culture were unusual.

Orbital exenteration reconstruction using a superficial temporalis muscle flap: The "Carpaccio flap", an innovative approach.

Introduction: Malignant orbital diseases may lead surgeons to practice an orbital exenteration associated with chemotherapy and/or radiotherapy to ensure curative treatment. That radical procedure makes physicians consider reconstructive filling in order to allow prothesis wearing and reduce esthetic and social after-effects. We first describe the clinical case of a 6-year-old patient who presented an orbital rhabdomyosarcoma and underwent an orbital exenteration with immediate reconstruction by a superficial temporal pedicled on the middle temporalis muscle flap.

Long-term outcomes of retrospective case series of middle ear implantation with Vibrant Soundbridge in children with congenital aural atresia.

Purpose: to assess audiological performance in quiet and noise, quality of life and side effects of Vibrant Soundbridge (VSB) in children with congenital aural atresia (CAA).

Methods: A retrospective study including consecutive patients with unilateral or bilateral CAA implanted with VSB from 2009 to 2020 in a tertiary referral centre.

Results: 18 patients with CAA and a present stapes were included (3 simultaneous bilateral VSB implants) and 21 ears: 17 VSB were attached to the short incus process, and four to the stapes.

Sleep-disordered breathing in pediatric neurofibromatosis type 1.

The relationship between neurofibromatosis type 1 (NF1) and sleep-disordered breathing (SDB) has not been widely studied. The aim of the study was to analyze SDB in children with NF1 of the respiratory system. All children with NF1 followed between September 2008 and July 2020 who had a respiratory polygraphy (RP) were included.

Head and neck Ewing sarcoma: French surgical practice analysis pleads for surgery centralization.

This study aimed to analyze surgical procedures for head and neck Ewing sarcoma (HNES) with regard to oncological, functional, and esthetic outcomes. A blinded multidisciplinary retrospective chart review of operated French HNES patients (Euro-EWING 99 trial, 1999-2014) was performed to assess patient/tumor characteristics, treatment details, and outcomes. Primary surgery without reconstruction was undertaken in 13 patients (emergency context/misdiagnosis).

Developmental changes of upper airway dimensions in children.

Background: Knowledge about airway dimensions during child growth is of paramount importance for pediatric clinical practice. Decisions about airway management in children are based on relatively limited, imprecise, or incomplete data about airway size.

Aims: The aim of this work was to determine the anatomical development and size of airway structures from birth to adolescence using high-resolution computed tomography scans and to study the correlation between airway measurements and biometric data.

The use of three-dimensional reconstructions of CT scans to evaluate anomalies of hyoid bone in Pierre Robin sequence: A retrospective study.

Aim: The aim of the study was to investigate hyoid bone anomalies in patients with Pierre Robin sequence (PRS) compared to the control group, using computed tomography (CT) examination and three-dimensional reconstruction of the hyoid bone and mandible.

Methods: A retrospective study was performed of patients between birth and 12 months old with isolated PRS (i-PRS) and syndromic PRS (ni-PRS), who had undergone CT examination, and whose results were compared to the control group of the same age. DICOM data was processed to highlight bone tissue.

Premaxillary abscess without bony erosion: An unusual complication of pediatric acute maxillary sinusitis.

Objectives: To report an unusual complication of pediatric acute maxillary sinusitis: premaxillary abscess. To describe clinical, radiological and biological presentation, treatment strategy and progression.

Material And Methods: A retrospective study included all pediatric patients treated for premaxillary abscess complicating acute maxillary sinusitis in two ENT reference centers between 1999 and 2017.

Cervical trauma in children: Be aware of the risk of infection.

Neck abscesses after a cervical trauma rarely occur, especially in children. Cervical abscesses are more generally complications of otolaryngological infections. Progression to severe complication or death may be rapid.

Management of Gorham Stout disease with skull-base defects: Case series of six children and literature review.

Background: Gorham-Stout disease (GSD) is a rare lymphatic disorder which results in bone destruction. Defects of the skull base are difficult to manage, we describe cases to better understand the disease and discuss treatment.

Methods: Retrospective study including all patients treated for GSD skull-base defects.

Rhabdomyosarcoma and rhabdomyoma associated with nevoid basal cell carcinoma syndrome: Local treatment strategy.

This article presents the case of a child presenting with a rhabdomyosarcoma associated with a fetal rhabdomyoma in the setting of nevoid basal cell carcinoma syndrome. Oncologic strategy is discussed.

Pierre Robin sequence: A comprehensive narrative review of the literature over time.

Pierre Robin syndrome (PRS) is characterized of a triad of clinical signs: micrognathia, glossoptosis and obstruction of the upper airways frequently associated with palatal cleft. It is a heterogenic pathological entity and it can be found as isolated disease (nsPRS) or in association with other syndromes (sPRS), with more pronounced symptoms and systemic involvement. This review aims to summarize the principal features of PRS, analysing the different aspects of the disease.

Melanotic neuroectodermal tumor of infancy (MNTI) of the head and neck: A French multicenter study.

Objectives: Melanotic neuroectodermal tumor of infancy (MNTI) of the head and neck is a rare entity with uncertain clinical behavior. Radical surgical resection is the current recommended treatment, however this can cause severe aesthetic and functional sequelae. The aim of this study was to clinically characterize MNTIs and to stratify risk factors that may influence locoregional recurrence.

Prenatal Diagnosis of a Melanotic Neuroectodermal Tumor of Infancy (MNTI): A Case Report With a Favorable Outcome After Chemotherapy Failure and Incomplete Resection.

We present the case of a woman referred to our department at 34 weeks of pregnancy with a fetal ultrasonographic scan showing a mass that had developed within the right maxilla with invasion of the orbit. A retrospective examination showed that this tumor had been present since the 12th week of pregnancy. At 39+4 weeks of gestation, a boy was born.

Velopharyngeal insufficiency managed by autologous fat grafting in patients with aberrant courses of internal carotid arteries.

Introduction: Velopharyngeal insufficiency (VPI) is usually managed, besides speech therapy, by performing a velopharyngoplasty. An alternative approach is autologous fat grafting (AFG) of the posterior pharyngeal wall. About 5% of the population has internal carotid arteries (ICA) with an aberrant course.