Cochlear Implantation ; Cochlear Implants ; Forehead/abnormalities* ; Humans ; Mutation ; Osteochondrodysplasias/genetics*

OBJECTIVE: To explore the clinical and genetic characteristics of a child with frontometaphyseal dysplasia 1 (FMD1) due to variant of FLNA gene. METHODS: Clinical phenotype of the patient was analyzed. Whole exome sequencing (WES) was carried out to detect pathogenic genetic variants. Sanger sequencing was used to verify the result in his parents. RESULTS: The 2-year-and-9-month-old boy presented with facial dysmorphism (supraorbital hyperostosis, down-slanting palpebral fissure and ocular hypertelorism), skeletal deformities (bowed lower limbs, right genu valgum, left genu varus, slight deformity of index and middle fingers, and flexion contracture of little fingers). He also had limited left elbow movement. High-throughput sequencing revealed that he has carried a de novo heterogeneous c.3527G>A (p.Gly1176Glu) missense variant of the FLNA gene. The same variant was found in neither parent. CONCLUSION The clinical manifestations of FMD1 such as joint contracture and bone dysplasia can occur in infancy and deteriorate with age, and require long-term follow-up and treatment. Above finding has expanded the spectrum of FLNA gene variants.
Child ; Filamins/genetics* ; Forehead/abnormalities* ; Humans ; Infant ; Male ; Osteochondrodysplasias/genetics* ; Phenotype ; Whole Exome Sequencing

OBJECTIVE: Forehead deformities are often caused by lack of treatment or incorrect restoration of the frontal buttress, so the underlying frontal buttress should be restored to its previous position to ensure that the previous forehead contour is restored in cases of complex depressed skull fractures. However, since brain injuries from skull fractures could have fatal consequences, the clinical concern in primary surgery has been to save the patient's life, and cosmetic concerns have always been secondary. We retrospectively reviewed fronto-orbital fracture patients who underwent primary restoration with primary bone fragments or an alloplastic implant and compared the surgical outcomes of autologous bone (group 1) and artificial materials (group 2). METHODS: A retrospective review was conducted of 47 patients with fronto-orbital fractures between March 2012 and January 2018. The patients underwent primary reconstruction with primary bone fragments or an alloplastic implant. The surgical results were evaluated by the incidence of infection and cosmetic satisfaction of patients. RESULTS: Infections occurred in one patient (5%) in group 1 and in two patients (15.3%) in group 2, which was not a statistically significant difference. In contrast, at 6 months after surgery, patient satisfaction showed a statistically significant between-group difference (group 1: 4.32 points, group 2: 3.54 points, p=0.001). CONCLUSION: Primary reconstruction using fractured bone fragments is an effective and preferable method that could result in better surgical outcomes than restoration using an alloplastic implant.
Brain Injuries ; Congenital Abnormalities ; Forehead ; Frontal Sinus ; Humans ; Incidence ; Methods ; Patient Satisfaction ; Retrospective Studies ; Skull Fracture, Depressed ; Skull Fractures

Binder syndrome is a rare maxillofacial abnormality. Yet, once presented, it often needs to be addressed surgically. To suit this purpose, various surgical techniques have been developed. This paper is a case report of a staged nasal reconstruction in a Binder syndrome patient using rib bone and cartilage graft and forehead flap. At the same time, preoperative and postoperative anthropomorphometric measurements were compared to assess the efficiency of the proposed surgical technique.
Cartilage* ; Forehead* ; Humans ; Maxillofacial Abnormalities ; Nose ; Ribs* ; Transplants*

BACKGROUND: Localized scleroderma is characterized by a thickening of the skin from excessive collagen deposits. It is not a fatal disease, but quality of life can be adversely affected due to changes in skin appearance, joint contractures, and, rarely, serious deformities of the face and extremities. We present six cases of localized scleroderma in face from our surgical practice. METHODS: We reviewed six localized scleroderma cases that were initially treated with medication and then received follow-up surgery between April 2003 and February 2015. Six patients had facial lesions. These cases presented with linear dermal sclerosis on the forehead, oval subcutaneous and dermal depression in the cheek. RESULTS: En coup de sabre (n=4), and oval-shaped lesion of the face (n=2) were successfully treated. Surgical methods included resection with or without Z-plasty (n=3), fat graft (n=1), dermofat graft (n=1), and adipofascial free flap (n=1). Deformities of the affected parts were surgically corrected without reoccurrence. CONCLUSION: We retrospectively reviewed six cases of localized scleroderma that were successfully treated with surgery. And we propose an algorithm for selecting the best surgical approach for individual localized scleroderma cases. Although our cases were limited in number and long-term follow-up will be necessary, we suggest that surgical management should be considered as an option for treating scleroderma patients.
Cheek ; Collagen ; Congenital Abnormalities ; Contracture ; Depression ; Extremities ; Follow-Up Studies ; Forehead ; Free Tissue Flaps ; Humans ; Joints ; Quality of Life ; Retrospective Studies ; Scleroderma, Localized* ; Sclerosis ; Skin ; Transplants

Reconstruction of the nasal alar may be challenging due to the complex nature of multiple cosmetic units and functional considerations, including maintenance of valvular competency. Reconstructive options include various flaps or graft repairs, depending on the subunit involvement and the size of the defect. Linear closures may be suitable for small defects, while bilobed flaps, melolabial flaps, and forehead flaps may be considered for moderate to large defects involving partial and full-thickness defects of the ala.
Congenital Abnormalities* ; Forehead ; Transplants

Trisomy 1 is a rare chromosomal anomaly and has never been reported in Korea. Clinical features of trisomy 1 include macrocephaly, prominent forehead, flat nasal bridge, low set ears, and micrognathia, all of which result in a very distinguishable facial structure. A child with trisomy 1 also suffers from mental retardation and/or developmental delays. In this case report, the child was diagnosed with de novo trisomy 1 without receiving any treatment until visiting our hospital. The child suffered from foot and ankle deformities, leading her unable to stand independently. Here we report the surgical treatment and rehabilitation treatment that enabled the child to walk independently.
Ankle ; Child* ; Congenital Abnormalities ; Ear ; Foot ; Forehead ; Humans ; Intellectual Disability ; Korea ; Megalencephaly ; Micrognathism ; Orthopedic Procedures ; Rehabilitation* ; Trisomy

PURPOSE: We report a case of visual loss after the injection of poly-L-lactic acid filler into the right forehead area for cosmetic purposes. CASE SUMMARY: A 46-year-old female patient visited our clinic due to sudden visual disturbance and dysesthesia on the right forehead and cheek. Her best corrected visual acuity was no light perception in the right eye and 20/20 in the left eye. Visual acuity in her right eye was not corrected. An afferent papillary defect in the right eye and paralysis of oculomotor muscles were observed. Fundus exam revealed a pale optic nerve and turbid retina on the posterior pole. The retinal vessels were narrowed. A papule 1 cm to the lateral margin of the right eyebrow due to the needle injection was found and no other visible skin abnormalities were observed. She had a cosmetic poly-L-lactic acid filler injection into the right forehead area immediately before the visual disturbance occurred. Fluorescent angiography showed occlusion of the right retinal artery and blood flow defects on the retina and choroid were present. The patient was followed up for 6 months and visual acuity and dysesthesia in her right forehead and cheek did not improve. CONCLUSIONS: Several cases of visual loss have occurred after injection of filler on the glabella and forehead for cosmetic purposes. However, most of the complications were observed after the use of hyaluronic fillers and not due to poly-L-lactic acid filler. This is the first case report of visual loss caused by poly-L-lactic acid filler in South Korea in a normal patient. Hence, consideration of complications when using this type of fillers is important.
Angiography ; Cheek ; Choroid ; Eyebrows ; Female ; Forehead* ; Humans ; Korea ; Middle Aged ; Needles ; Oculomotor Muscles ; Optic Nerve ; Paralysis ; Paresthesia ; Retina ; Retinal Artery ; Retinal Vessels ; Skin Abnormalities ; Visual Acuity

PURPOSE: Reconstruction for post-radiation scar on periorbital area including upper eyelid takes consider of eyelid function and cosmetic results. It is a challenging procedure to reconstruct the severe radiation induced scars deformities on face around the orbital area in terms of its complicated anatomy and restoration of cosmetic social function. The authors report a reconstruction case of radiation induced severe facial deformities with scars including upper lid and periorbital area using evidence based plastic surgical techniques such as newly designed lower lid orbicularis oculi myocutaneous transposition flap, lateral canthopexy, skin graft, composite graft, fat graft, acellular dermal matrix graft, Z-plasty focusing on cosmetic and functional result. METHODS: A 18 year-old female patient had right upper facial deformities caused by radiation induced wide scars around the right periorbital, upper lid and temporal area after treatment for hemangioma at age of 1. She also showed right facial palsy on forehead, and hypoplasia of left ala nasi. The patient suffered from skin atrophy, wide scar formation, scar contractures on right periorbital area, severe lagophthalmos on right eye, right frontal facial palsy, and small hypoplastic left ala nasi. At the first operation, release of scars and full thickness skin graft, reposition of asymmetric right eyebrow caused by facial palsy using Z-plasty, correction of temporal depression using acellular dermal matrix (AlloDerm(R)) graft, and auricular composite graft for left ala nasi reconstruction were performed. And after 4 months follow-up, the second operations were performed including lower orbicularis oculi muscle transposition flap for upper lid lagophthalmos, lateral canthopexy, and fat graft. RESULTS: Lower lid orbicularis oculi muscle transposition flap and all grafts were successfully survived. After 3 weeks follow-up, she showed good looking facial appearance and facial symmetry, and there were no complications. CONCLUSION: For post-radiation facial scar reconstruction, it showed a better cosmetic outcome using flap transfer rather than skin graft. The newly designed lower eyelid orbicularis oculi muscle transposition flap, canthopexy, fat graft give a good result for reconstruction of radiation induced scars of upper eyelid and periorbital deformities.
Acellular Dermis ; Atrophy ; Cicatrix* ; Congenital Abnormalities ; Contracture ; Depression ; Eyebrows ; Eyelids ; Facial Paralysis ; Female ; Follow-Up Studies ; Forehead ; Hemangioma ; Humans ; Orbit* ; Skin ; Transplants

PURPOSE: Facial contouring surgery for improving congenital, acquired deformity and senile change were attempt in past. Recently contouring surgery became more interested subject for improving the flat forehead and temple area. Many synthetic materials were used such as Collagen, silicon, polyacrylamide gel as liquid form and Gore-tex, silicon implant, endotine as solid form. But, these synthetic implants associate complications as foreign body reaction, infection, displacement, granuloma formation and absorption. Auto-fat injection are used for disfigurement of many part of body. We did auto-fat injection for facial contouring of forehead and temple region. Auto-fat injection is suitable without foreign body reaction, displacement, and toxic reaction. Also auto-fat is relatively simple to obtain from patient and less expensive and able to repeat surgeries. METHODS: From 2006 to 2009, 150 patients were treated with Auto-fat injection for facial contouring. For follow up, we sent questionnaire to all patients but 110 patients returned answer sheets. The patients consisted of 20 male patients and 90 female patients with an age ranged from 26 to 60, and the mean 43. Fat tissue were injected 6-8cc in forehead, 7-12cc in temple area and fat were harvested from thigh and abdomen. RESULTS: In follow up, all patients, showed absorption of injected fat varied degree and except two patients all patients underwent secondary fat injection. Complications were minimal and neuropraxia of facial nerve were recovered. Most of the patients were satisfied with result of procedure, and answered that they recommend same procedure to their friends and will do surgery again. CONCLUSION: Auto-fat injections were implemented for facial contouring in 150 patients and obtained satisfactory result. Auto-fat injection is relatively easy procedure and applicable widely. Even though, by passing time, some of the injected fats are absorbed, auto-fat injection could be choice of treatment for contouring forehead and temple. With accumulations of cases and development of surgical technique, better result could be expected.
Absorption ; Acrylic Resins ; Collagen ; Congenital Abnormalities ; Displacement (Psychology) ; Facial Nerve ; Fats ; Female ; Follow-Up Studies ; Forehead ; Foreign-Body Reaction ; Friends ; Granuloma ; Humans ; Male ; Polytetrafluoroethylene ; Surveys and Questionnaires ; Silicones ; Thigh