Patient 1, a 3-year-6-month-old male, presented with feeding difficulties and delayed motor development. He exhibited poor responsiveness at birth, weak crying, intellectual and motor delays, low immunity, recurrent respiratory infections, hypotonia of the limbs, and distinctive facial features (low-set ears, double chin, and high arched palate), as well as a single transverse palmar crease on the right hand. Genetic testing revealed a c.1096C>T heterozygous variant in the SMARCB1 gene. Patient 2, a 3-year-old male, presented with developmental delay and distinctive facial features. Genetic testing identified the same pathogenic mutation as in Patient 1. The two patients are unrelated, and clinical phenotyping and genetic testing confirmed both cases as Coffin-Siris syndrome type 3. Coffin-Siris syndrome is a rare genetic disorder, and early genetic testing can aid in diagnosis.
Child, Preschool ; Humans ; Male ; Abnormalities, Multiple/genetics* ; Chromosomal Proteins, Non-Histone/genetics* ; Ear/abnormalities* ; Face/abnormalities* ; Hand Deformities, Congenital/genetics* ; Intellectual Disability/genetics* ; Micrognathism/genetics* ; Mutation ; Neck/abnormalities*

Objective:To explore the value of high resolution computed tomography（HRCT） combined with Magnetic Resonance Imaging（MRI） in the diagnosis of inner ear malformation. Methods:HRCT and MRI data of 82 patients with inner ear malformations were analyzed retrospectively. HRCT MPR and CPR reconstruction of the inner ear structure, facial nerve canal and oblique sagittal MRI reconstruction of the internal auditory canal were performed. The inner ear malformations were classified, the conditions of facial nerve canal and cochlear nerve were evaluated. The association between inner ear malformation and cochlear nerve dysplasia were analyzed by Chi-square test with continuity correction. Results:Among the 82 patients with inner ear malformations,there were 49 cases of bilateral symmetry, 11 cases of bilateral asymmetry and 22 cases of unilateral inner ear malformations. Respectively, the most prevalent types were IP-Ⅱ（42.96%）, dilatation of atrium aqueduct（18.31%） and malformations of atrium and semicircular canal 19.72%. Out of 50 cases of cochlear malformations,only 3 were isolated cochlear malformations, and the rest were accompanied by other malformations of varying degrees. In the 67 ears examined by MRI, 26（38.81%） had cochlear nerve deficiency（CND）, and the incidence of CND varied with different types of inner ear malformations. Out of 142 ears, 28（19.72%） had abnormalities of the facial nerve canal. Conclusion:HRCT combined with MRI can accurately distinguish the types of inner ear malformation and effectively evaluate the facial nerve canal and cochlear nerve, and further provides the important finger and Guide value for the clinician to formulate the reasonable treatment and the operation plan.
Humans ; Ear, Inner/diagnostic imaging* ; Magnetic Resonance Imaging/methods* ; Retrospective Studies ; Female ; Male ; Tomography, X-Ray Computed/methods* ; Child ; Adolescent ; Adult ; Child, Preschool ; Cochlear Nerve/diagnostic imaging* ; Facial Nerve/abnormalities* ; Cochlea/abnormalities* ; Infant ; Young Adult

Congenital Abnormalities/surgery* ; Congenital Microtia/surgery* ; Ear/surgery* ; Hearing ; Hearing Aids ; Hearing Tests ; Humans ; Reconstructive Surgical Procedures

BACKGROUND: Cryptotia is a congenital anomaly in which the upper part of the retroauricular sulcus is absent and buried underneath the temporal skin. Various surgical techniques have been reported for the correction of cryptotia following Kubo’s V-Y plasty in 1933. Conventional methods using a local skin flap, skin grafting, tissue expansion, Z-plasty, and any of these combined approaches can result in skin deficiency of the upper auricle. The aim of this study was to develop a new method that improves cosmetic results and has fewer complications. METHODS: This study involved four patients in whom five cryptotia deformities were corrected using V-Y plasty and Z-plasty. After elevation of the flap, acellular dermal matrix (ADM; MegaDerm) that was over 5 mm in thickness was applied to the cephalo-auricular angle and positioned to enhance the projection of the ear. Lastly, the flap was transposed to complete the repair. RESULTS: Between January 2014 and February 2018, cryptotia correction with ADM graft was performed in four patients. None of the patients developed a recurrence of cryptotia, and there were no postoperative complications such as wound infection, seroma formation, and dehiscence. In addition, the procedures resulted in a favorable cosmetic appearance. CONCLUSION: Based on these findings, i.e., no recurrence and a favorable cosmetic result, when using an ADM graft, it is suggested that this technique could be an alternative method of cryptotia correction. It could also lessen donor-site morbidity when compared to autologous cartilage grafting and be more cost-effective than using cartilage from a cadaver.
Acellular Dermis ; Cadaver ; Cartilage ; Congenital Abnormalities ; Ear ; Ear Cartilage ; Humans ; Methods ; Postoperative Complications ; Recurrence ; Seroma ; Skin ; Skin Transplantation ; Tissue Expansion ; Transplants ; Wound Infection

Relapsing polychondritis (RP) is a rare autoimmune disorder of unknown etiology characterized by recurrent episodes of inflammation and the destruction of cartilaginous tissues, primarily involving the ear, nose, and the respiratory tract. Nasal chondritis is present in 24% of patients at the time of diagnosis and develops subsequently in 53% throughout the diseases progress. Progressive destruction of nasal cartilage leads to the characteristic flattening of the nasal bridge, resulting in the saddle nose deformity. In patients with RP, surgical management for saddle nose is carefully decided due to the disease relapsing characteristics. We present a RP patient with a saddle nose deformity who underwent reconstruction rhinoplasty with autologous costal cartilage grafting. At 6-month follow-up, the patient retained good esthetic results and showed neither complication nor relapse of RP.
Congenital Abnormalities ; Costal Cartilage ; Diagnosis ; Ear ; Follow-Up Studies ; Humans ; Inflammation ; Nasal Cartilages ; Nose ; Polychondritis, Relapsing ; Recurrence ; Respiratory System ; Rhinoplasty ; Transplants

Nasal septal abscess is a serious condition that necessitates urgent surgical management, and it may lead to saddle nose deformity caused by the loss of cartilaginous support. To date, there is no consensus among clinicians with regard to early versus late surgical management of the saddle nose deformity. For the growing child, reconstructing the septum is essential for the normal development of the nose. We present a case of nasal septal abscess with a nearly total loss of septal cartilage of a 13-year-old male. His nasal septum was reconstructed immediately with autologous ear cartilage attached to a bioabsorbable plate through open approach. The aesthetic problems such as the saddle nose have not occurred during the follow-up period.
Abscess ; Adolescent ; Cartilage ; Child ; Congenital Abnormalities ; Consensus ; Ear Cartilage ; Follow-Up Studies ; Humans ; Male ; Nasal Septum ; Nose ; Transplants

Due to the variety in the shape of dysmorphic cartilage, tragus reconstruction is one of the most challenging goals in otoplasty. The authors describe a method to reconstruct a prominent tragus in a simple way suitable for accounting for the size, shape, and location of the remaining ear. We present a case of tragus deformity in an 11-year-old female patient after a previous excision of pretragal skin tags. There was a small remnant of the deeply located dystopic cartilage in a horizontal orientation. The dystopic cartilage was used to reconstruct the tragus using a chondrocutaneous transposition flap. Only a small portion of the pre-existing cartilage was used to create a chondrocutaneous transposition flap that supplemented the portion of cartilage during tragus reconstruction. The result was a new tragus that showed acceptable improvement in shape, location, and projection. Patients with a small portion of pre-existing cartilage near the tragal wall may benefit from the use of this method for tragus reconstruction.
Cartilage ; Child ; Congenital Abnormalities ; Ear ; Ear, External ; Female ; Humans ; Methods ; Skin ; Surgical Flaps

OBJECTIVE: To describe the characteristics of the clinical presentation, diagnosis, surgical methods, and outcomes of patients with otogenic cerebrospinal fluid (CSF) leakage secondary to congenital inner ear dysplasia. METHODS: A retrospective review was performed of 18 patients with otogenic CSF leakage secondary to inner ear dysplasia who underwent surgery in our group from 2007 to 2017 and had a follow-up of at least 4 months. The average length of follow-up was three years. The characteristics of the clinical presentations of all patients, such as self-reported symptoms, radiographic findings, surgical approaches and methods of repair, position of the leakage during surgery, and postoperative course, including the success rate of surgery, are presented. RESULTS: The patients presented mostly with typical symptoms of meningitis, severe hearing impairment, and CSF otorrhea or rhinorrhea. All 18 patients had at least one previous episode of meningitis accompanied by a severe hearing impairment. The preoperative audiograms of 17 patients showed profound sensorineural hearing loss, and one patient had conductive hearing loss. Twelve patients presented with an initial onset of otorrhea, and two had accompanying rhinorrhea. Six patients complained of rhinorrhea, two of whom were misdiagnosed with CSF rhinorrhea and underwent transnasal endoscopy at another hospital. High-resolution computed tomography (HRCT) images can reveal developments in the inner ear, such as expansion of a vestibular cyst, unclear structure of the semicircular canal or cochlea, or signs of effusion in the middle ear or mastoid, which strongly suggest the possibility of CSF otorrhea. The children in the study suffered more severe dysplasia than adults. All 18 patients had CSF leakage identified during surgery. The most common defect sites were in the stapes footplates (55.6%), and 38.9% of patients had a leak around the oval window. One patient had a return of CSF otorrhea during the postoperative period, which did not re-occur following a second repair. CONCLUSIONS CSF otorrhea due to congenital inner ear dysplasia is more severe in children than in adults. The most common symptoms were meningitis, hearing impairment, and CSF otorrhea or rhinorrhea. HRCT has high diagnostic accuracy for this disease. The most common fistula site was around the oval window, including the stapes footplates and the annular ligament.
Adolescent ; Adult ; Cerebrospinal Fluid Otorrhea/therapy* ; Child ; Child, Preschool ; Ear, Inner/abnormalities* ; Humans ; Infant ; Middle Aged ; Retrospective Studies ; Young Adult

Auricular deformities occur frequently in newborn infants. Typically, most pediatricians explain to parents that these deformities will get better as child grows older. But, only about 30% of auricular deformities are known to be self-correcting, and there is no reliable model to predict them. If ear molding is initiated during the first days of life with the EarWell System, successful treatment could be possible without pain in a non-surgical way. We present 3 cases of auricular deformities treated with the EarWell System. 2 infants were born with auricular deformities at Gangnam Cha Medical Center and 1 infant visited the outpatient clinic for the treatment of auricular deformities. 5 ears in 3 infants underwent ear molding using the EarWell System. They had it placed on the 20th day after birth. Average treatment time was 18.7 days, and all of them were corrected. Complications were redness, oozing, erosion and mild pressure ulcerations. Early recognition and treatment of the auricular deformity ensure the great prospect of success. Also, it is important for both the parents and the pediatricians to know that auricular deformities could be successfully treated with Earwell System.
Ambulatory Care Facilities ; Child ; Congenital Abnormalities* ; Ear ; Hearing Aids ; Humans ; Infant ; Infant, Newborn* ; Parents ; Parturition ; Pressure Ulcer

OBJECTIVE: To present our experience with ear splint therapy for babies with ear deformities, and thereby demonstrate that this therapy is an effective and safe intervention without significant complications. METHODS: This was a retrospective study of 54 babies (35 boys and 19 girls; 80 ears; age ≤3 months) with ear deformities who had received ear splint therapy at the Center for Torticollis, Department of Physical Medicine and Rehabilitation, Ajou University Hospital between December 2014 and February 2016. Before the initiation of ear splint therapy, ear deformities were classified with reference to the standard terminology. We compared the severity of ear deformity before and after ear splint therapy by using the physician's ratings. We also compared the physician's ratings and the caregiver's ratings on completion of ear splint therapy. RESULTS: Among these 54 babies, 41 children (58 ears, 72.5%) completed the ear splint therapy. The mean age at initiation of therapy was 52.91±18.26 days and the treatment duration was 44.27±32.06 days. Satyr ear, forward-facing ear lobe, Darwinian notch, overfolded ear, and cupped ear were the five most common ear deformities. At the completion of therapy, the final physician's ratings of ear deformities were significantly improved compared to the initial ratings (8.28±1.44 vs. 2.51±0.92; p<0.001). There was no significant difference between the physician's ratings and the caregiver's ratings at the completion of ear splint therapy (8.28±1.44 vs. 8.0±1.61; p=0.297). CONCLUSION: We demonstrated that ear splint therapy significantly improved ear deformities in babies, as measured by quantitative rating scales. Ear splint therapy is an effective and safe intervention for babies with ear deformities.
Child ; Congenital Abnormalities* ; Ear Auricle ; Ear* ; Ear, External ; Female ; Humans ; Infant ; Physical and Rehabilitation Medicine ; Retrospective Studies ; Splints* ; Torticollis ; Weights and Measures