The new classification system for inner ear malformations: the INCAV system.

CONCLUSIONS: The proposed INCAV system standardizes reporting of inner ear malformations; gives adequate information about the structures of inner ear; defines the ears which could not be classified before; and helps in the selection of the ear as the cochlear implant candidate. Also it is easy-to-use for radiologists, and useful to the referring otolaryngologists. OBJECTIVE: This study was conducted to explore a more specific, definitive classification system which was based on radiological criteria for inner ear malformations. METHOD: This study found 43 patients who had inner ear malformations, magnetic resonance (MR), and computed tomography (CT) imaging, together with the retrospective evaluation of the medical records between August 2010 and February 2015. It analyzed inner ear structures by dividing five sub-groups and each sub-group was given a letter: internal acoustic canal (I), cochlear nerve (N), cochlea (C), vestibular aqueduct (A) and vestibule (V). Based on their malformations, these anatomical structures have been assigned grades and have been classified by using increasing numbers which were dependent to increasing order of severity of the malformation. RESULTS: Among these 43 patients, there were six normal (I0N0C0A0V0) and 80 inner ear malformations. All of the ears were defined successfully by the INCAV system.

A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.

PURPOSE: Screening of mutations in the paired box 3 (PAX3) gene in three generations of a Turkish family with Waardenburg syndrome type 1 (WS1). METHODS: WS1 was diagnosed in a 13-month-old girl according to the WS Consortium criteria. Detailed family history of the proband revealed eight affected members in three generations. Routine clinical and audiological examination and ophthalmologic evaluation were performed on eight affected and five healthy members of the study family. Dystopia canthorum was detected in all affected patients; however, a brilliant blue iris was present in five patients who also had mild retinal hypopigmentation. Genomic DNA was extracted from the peripheral blood of affected and unaffected individuals in the family as well as 50 unrelated healthy volunteers. All coding exons and adjacent intronic regions of PAX3 were sequenced directly. RESULTS: A novel missense heterozygous c.788T>G mutation was identified in eight patients. This nucleotide alteration was not found in unaffected members of the study family or in the 50 unrelated control subjects. The mutation causes V263G amino-acid substitution in the homeodomain of the PAX3 protein, which represents the 45(th) residue of helix 3. CONCLUSIONS: We identified a novel missense c.788T>G mutation in PAX3 in a family with Waardenburg syndrome with intrafamilial phenotypic heterogeneity.

White sponge nevus: clinical suspicion and diagnosis.

White sponge nevus is a rare, autosomal-dominant disorder that affects the noncornified stratified squamous epithelia. Clinically, the presence of white, spongy plaques mostly in the buccal, labial, and gingival mucosa and the floor of the mouth characterize the lesions. The differential diagnosis of the lesion may be difficult and it is best diagnosed by biopsy. We report a case of white sponge nevus in the oral cavity of a 16-year-old boy and review of the literature.

Paranasal sinus development in children: A magnetic resonance imaging analysis.

BACKGROUND: The anatomy of the paranasal sinus is significantly different between adults and children, and surgeons must be aware of these differences to safely perform pediatric functional endoscopic sinus surgery. The purpose of this study was to determine the normal dimensions of the paranasal sinuses during development using magnetic resonance imaging (MRI) data compiled from the largest cohort to date. METHODS: The records of 2025 children, aged 0-18 years, who underwent cranial MRI, were examined retrospectively and 1452 patients with no history of sinus disease were included in the study. Coronal, axial, and sagittal images were used to measure the dimensions of the frontal, maxillary, ethmoid, and sphenoid sinuses, and the sinus volume index was measured. Patients were divided into 10 cohorts based on their age at the time of the scan. RESULTS: No difference between left and right one-dimensional measurements and volume indexes for the maxillary, sphenoid, ethmoid, and frontal sinuses was observed in any age group. Initial signs of pneumatization were observed at birth for the maxillary and ethmoid sinuses, at 9 months for sphenoid sinus, and after the age of 5 years for the frontal sinus. CONCLUSION: These results will help physicians correlate the clinical and radiographic findings of pediatric patients who are being evaluated for sinus disease and potential surgical intervention. Knowledge of the variations in the size of the paranasal sinuses is essential for determining the significance of incidental findings.

Age-specific size of the upper airway structures in children during development.

OBJECTIVES: The purpose of this study was to establish the largest magnetic resonance imaging study so far, by including 292 cases in a prospective fashion, to investigate the normative values of the upper airway and surrounding tissues during development. METHODS: We enrolled in the study 448 children who underwent cranial magnetic resonance imaging. We included 292 patients who had no sleep disorders or any associated symptom that could be related to breathing disorders. Using midsagittal and axial images, we evaluated the variations in size of the upper airway tissues. RESULTS: On images from the midsagittal plane, the normative values of the length and the thickness of the soft palate, the length and height of the tongue, the distance between the mental spine and the clivus, the thickness of the adenoid pad and the nasopharyngeal area, the adenoid pad oblique width, the soft palate oblique width, and the tongue oblique width were obtained for several age groups. Using images from the axial plane at the level of maximal tonsillar cross-sectional area, we measured the normative values of the mean tonsillar width and intertonsillar space. CONCLUSIONS: Magnetic resonance imaging is an excellent method of assessing upper airway structures. Knowledge of variations in size of the upper airway and surrounding tissues is essential in determining the significance of incidental findings in this area.

Endoscopic-assisted versus curettage adenoidectomy: a prospective, randomized, double-blind study with objective outcome measures.

OBJECTIVE: To establish whether there is both objectively and subjectively improved recovery in children receiving endoscopic-assisted adenoidectomy, compared with children receiving curettage adenoidectomy. STUDY DESIGN: Prospective, randomized, double-blinded study. METHODS: Thirty-eight patients who underwent adenoidectomy alone or in combination with tonsillectomy before the planned tympanomastoid surgery with an age range from 8 to 12 years were enrolled in the study. Children were prospectively and randomly assigned into two groups: the endoscopic-assisted adenoidectomy and the curettage adenoidectomy. The main subjective parameters were the nasopharyngoscopy and the symptom improvement scale, whereas the main objective parameter was the midsagittal reformatted images of the temporal bone computerized tomographies of patients who underwent adenoidectomy before the planned tympanomastoid surgery. To adequately compare the utility of one technique versus the other, blood loss and operative time were also reviewed. RESULTS: Evaluation of the temporal bone computerized tomographies of patients by adenoidal/nasopharyngeal ratios revealed a statistically significant difference with a mean ratio of 0.41 in the curettage and 0.30 in the endoscopic-assisted group. However, both groups had a significant improvement in the symptom improvement scale with no evidence for a significant difference between the endoscopic-assisted and curettage groups. CONCLUSIONS: Although, objective outcomes reveal that endoscopic-assisted adenoidectomy technique was superior to curettage adenoidectomy in reducing adenoidal size after surgery, subjectively no differences were noted between two methods.

Otoplasty in children younger than 5 years of age.

OBJECTIVE: The prominent ear is the most common congenital deformity of the auricle. It is often recommended that prominent ears be surgically repaired before children start school and most surgeons seem to perform the surgery after 5 years of age. The aim of our study is to summarize the rationale of performing otoplasty procedure in children under the age of 5, to discuss the advantages and disadvantages, and to review the patient (parent) satisfaction. METHODS: A retrospective study was performed on 10 children under the age of 5 who underwent otoplasty procedure and was followed for over a year. RESULTS: Ten patients (3 boys and 7 girls) between the ages of 48 months and 59 months, with a median age of 51.5 months were evaluated. Otoplasty was bilateral in 8 patients and unilateral in 2 patients. Global Aesthetic Improvement Scales of the patients were rated as "improved" or "better" at 52 weeks. The patient (parent) satisfaction was measured by a telephone survey. Parents revealed that 9 out of 10 were "very" or "completely" satisfied with the appearance and symmetry of their children's ears. We did not observe any visible disturbance or growth restriction in our patients, even in the unilateral operated group. CONCLUSION: Timing of surgery is an issue of concern with regard to otoplasty in children. There may be significant psychosocial benefit to early intervention, particularly in light of changing norms for interaction with peers at ages considerably earlier than what had previously been thought of as the "school age." Our preference is to plan the otoplasty as young as four years of age, after the child has expressed some concern about the deformity.