Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings

Objective: Heterozygous CHD7 mutations cause a broad spectrum of clinical phenotypes ranging from typical CHARGE syndrome to self-limited delayed puberty. This study aimed to investigate the clinical characteristics of endocrine dysfunction in patients with CHD7 mutations. Methods: The clinical features and endocrine findings from 30 patients with CHD7 variants were retrospectively reviewed. A diagnosis of CHARGE syndrome was based on the Verloes diagnostic criteria. Results: Seventeen patients fulfilled the criteria for typical CHARGE syndrome, one patient for partial/incomplete CHARGE, and the remaining 11 patients had atypical CHARGE syndrome. One patient was diagnosed with Kallmann syndrome and unilateral deafness. The most frequently observed features were inner ear anomalies (80.0%), intellectual disability (76.7%), and external ear anomalies (73.3%). The mean height and weight SDSs at diagnosis were -2.6 ± 1.3 and -2.2 ± 1.8, respectively. Short stature was apparent in 18 patients (60%), and one patient was diagnosed with growth hormone deficiency. Seventeen males showed genital hypoplasia, including micropenis, cryptorchidism, or both. Seven patients after pubertal age had hypogonadotropic hypogonadism with hyposmia/anosmia and olfactory bulb hypoplasia. Truncating CHD7 mutations were the most common (n = 22), followed by missense variants (n = 3), splice-site variants (n = 2), and large deletion (n = 2). Conclusions: A diverse phenotypic spectrum was observed in patients with CHD7 variants, and endocrine defects such as short stature and delayed puberty occurred in most patients. Endocrine evaluation, especially for growth and pubertal impairment, should be performed during diagnosis and follow-up to improve the patient’s quality of life.

TOTAL ENDOSCOPIC STAPES SURGERY. OUR TECHNIQUE AND EXPERIENCE OF 45 CASES

Objective: To assess the hearing results of transcanal endoscopic stapedotomy Study Design: Descriptive study. Place and Duration of Study: Pakistan Naval Ship Hafeez Islamabad Pakistan, from Jun 2016 to Jun 2020. Methodology: All patients with surgically confirmed otosclerosis were included in the study. All patients were operated with 0-degree 3mm, 14cm rigid endoscope under general anesthesia. Preoperative and post operative air bone gap was noted along with demographic data, middle ear anomalies (persistent stapedial artery, dehiscent facial nerve, anteriorly placed facial nerve, floating foot plate) and injury to chorda tympani. Postoperative air bone gap (A-B Gap) was documented 12 weeks after surgery. All patients were followed up for 6-12 months Results: Mean age of patients was, 37 years and standard deviation was 12.34 (range 27-52 years). Out of total 45 cases 13 were males (29%) and 32 females (71.%). Four (8.8%) patients had dehiscent facial canal and 1 (2.2%) patient had persistent stapedial artery. Average preoperative A-B gap was 35 db and Average Postoperative A-B Gap was 7 db. Chorda tympani was preserved in all cases. One patient (2.2%) complained of altered taste which resolved after 3 months. Four patients had Postoperative vertigo that lasted 2 days on average. Conclusion: Endoscopic trans canal Stapes surgery is scarless safe effective procedure demonstrable hearing benefits in all patients with minimum complications. The Technique is single handed and has steep learning curve.

Partial Duplication of the Lateral Semicircular Canal—A Novel Anatomical Malformation in a Child with Barakat Syndrome

Several known genetic causes of sensorineural deafness are associated with dysplasia of inner ear structures, including the cochlea and labyrinth. Here, we present a child with Barakat syndrome and sensorineural hearing loss, found to have multiple inner ear anomalies including partial duplication of the posterior limb of the left lateral semicircular canal. To our knowledge, duplication of the semicircular canal has not previously been reported. This finding expands our understanding of the range of anatomical variations observed in congenital inner ear malformations, and further characterizes the phenotypic manifestations of Barakat syndrome.

An aborted case suspected to CHARGE Syndrome; A rare case with cardiac, intestinal and kidney abnormalities

Background CHARGE syndrome is a life-threatening congenital anomaly. The syndrome associations consist of coloboma, heart disease, atresia of the choanae, retarded growth and development, genital hypoplasia/genitourinary anomalies, and ear anomalies and or hearing loss. The aim of this paper is to describe and discuss a rare case of CHARGE syndrome. Case presentation During the routine dissection, atrial septal defect, overriding aorta from both ventricles, patent ductus arteriosus, duodenal anomaly, absent pancreas, right side descending and sigmoid, intestinal herniation in lesser sac, and left kidney anomaly were observed. Conclusions This rare case is of importance in re-considering the criteria of CHARGE and understanding the importance of the orchestrated morphologic driving forces of embryonic development.

İnkomplet partisyon tip II bulunan unilateral ve bimodal koklear implant kullanıcılarının konuşma, uzaysal algı ve işitme kalitesinin değerlendirilmesi

Evaluation of the speech, spatial and qualities of hearing in unilateral and bimodal cochlear implant users with incomplete partition type II Objective: The aim of this study was to perform a scale-based assessment of the hearing abilities of cochlear implant users with IP type II malformation and normal cochlea, including discrimination, orientation, and positioning of speech and environmental sounds in their environment. Material and Methods: A total of 30 cochlear implant users, 15 participants with IP-II inner ear anomalies and 15 participants with normal cochlea, aged 18-55 years were included in this study. All participants included in the study are unilateral CI and bimodal users. Participants were assessed using the Speech, Spatial, and Hearing Qualities Scale (SSQ). Results: When cochlear implant users with IP-II malformations and cochlear implant users with normal cochlea individually scored auditory abilities, the results were similar. It was observed that bimodal listeners tended to have all subdomains and overall SSQ scores compared to use of unilateral CI. Conclusion: It is very important to benefit from the advantages of binaural hearing in hearing sounds. It is thought that the use of scales as well as routine audiological evaluation batteries in the follow-up processes of cochlear implant users will be beneficial for audiologists. Keywords: Cochlear implant, speech perception, spatial perception, hearing quality

A Novel Nonsurgical Technique for Correcting Congenital Auricular Anomalies

Congenital ear anomalies are associated with psychological morbidity. Ear deformities can usually be corrected by nonsurgical techniques such as splinting or molding in the neonatal period, initiated before 6 weeks. Without early corrections, many will require otoplasty during childhood. We introduce a novel silicone-based custom mold technique for congenital ear anomalies. The highly malleable silicone was pushed into every part of the auricle, enabling the auricle to remain in the desired shape, with new molds made weekly. Of 31 newborns (18 males, 13 females), 54 ears were treated. Average age at treatment initiation was 26.8 days. The mean treatment duration was 43.2 days, with a median of 28 days. Normal appearance and parent's satisfaction were achieved in 30 patients with 49 deformed ears and also in four newborns older than 6 weeks. Three concha type microtia in two patients achieved great improvements and parents' satisfaction. No complications were reported. Marked aesthetic improvements and normal appearance were achieved for all deformed auricles treated, and improvements in the concha type microtia will partially alleviate future surgical corrections. The results are not inferior to other techniques. The advantages are as follows: cost-effective, time-saving, simple to master, no need for hair shaving, and easy use for parents. Patients older than 6 weeks of age achieved normal auricle appearance, enabling the correction in older newborns. Custom made silicone auricle molding offers a simple nonsurgical technique for correcting congenital ear anomalies, alleviating the need for future surgical corrections.

Role of Computed Tomography and Magnetic Resonance Imaging in detecting the Prevalence of inner ear anomalies among cochlear implant candidates

Background Hearing loss management using cochlear implants in patients with inner ear anomalies has long been discussed in the otology community. Magnetic resonances imaging (B,/IRI) and Computed tomography (CT) play important roles in the preoperative assessment of inner ear abnormalities such as cochlear nerve deficiency and variant anatomy as these abnormalities may not only affect the decision of the implantation procedure or the patient's prognosis regarding auditory improvement, but also the risk of complications. Objective To examine the prevalence of inner ear anomalies among cochlear implant recipients in patients with congenital sensorineural hearing loss among the pediatric age group in the Demerdash hospital, Ain Shams university using High resolution computed tomography (HRCT) and MRI imaging. Methods A retrospective descriptive study over the course of 9 months that included all patients that are candidates for cochlear implant referred to the Radiology department, Ain Shams University Hospitals for a preoperative imaging in the form of CT and VIRI scans. Results CT and MRI scans of 33 patients who had congenital hearing loss and were candidates for cochlear implantation with total 66 ears were reviewed. Inner ear anomalies were identified in 8 patients representing a prevalence (24.2%) with 14 ear diseased. Anomalies were seen bilaterally in 6 patients and unilaterally in 2 patients. Among the 14 diseased ear, 9 ears (64.3%) were seen with incomplete partition Il, 7 ears (50%) were seen with enlarged vestibular aqueduct, 4 ears (28.6%) were seen with cochlear hypoplasia, 3 ears (21.4%) were seen with semicircular canal aplasia, 2 ears (14.3%) were seen with incomplete partition type I, 2 ears (14.3%) were seen with cochlear nerve aplasia, 2 ears with cochlear aplasia (14.3%), I ear (7.1%) was seen with common cavity ear (7.1%) with complete labyrinthine aplasia. Conclusion Prevalence of inner ear anomalies among cochlear implant candidates was 24.2%. This result is consistent with results worldwide and the most common anomalies were Incomplete partition Il and large vestibular aqueduct. Abbreviations Computed tomography (CT), Magnetic resonance imaging (MRI), High resolution computed tomography (HRCT), Internal auditory canal (IAC), Cerebellopontine angle (CPA).