A female infant was admitted to the hospital due to perioral cyanosis two hours after birth. The infant was born at the gestational age of 35 weeks by cesarean section with a birth weight of 2 400 g. Physical examination revealed wry mouth to the left side while crying, small auricles, and high palatal arch; fibrolaryngoscopy suggested bilateral vocal cord paralysis; echocardiography suggested ventricular septal defect; single nucleotide polymorphism testing showed 22q11.21 microdeletion. Therefore, the infant was given a definite diagnosis of asymmetric crying facies syndrome accompanied by 22q11.21 microdeletion. After 8-month follow-up, the infant still had asymmetric crying facies with presence of growth retardation.
Cesarean Section ; Crying ; Facial Paralysis ; Female ; Heart Defects, Congenital ; Humans ; Infant ; Pregnancy ; Vocal Cord Paralysis

Congenital hypoplasia of the depressor anguli oris muscle is a rare cause of asymmetrical crying facies in newborns. The clinical manifestations range from mild to severe asymmetry and may persist up to adulthood. In the current case, the patient did not exhibit other congenital anomalies or paralysis of other branches of the facial nerve. This adult patient presented with severe asymmetrical lower lip deformity during full mouth opening since birth. A chromosomal study for the detection of 22q gene deletion yielded negative results. The electromyography findings of the lower lip were insignificant. Depressor labii inferioris muscle resection was not effective, but bidirectional (horizontal and vertical) fascia lata grafting improved the aesthetic appearance of the asymmetrical lower lip. The patient showed improved lower lip symmetry during full mouth opening at 1 year after the surgery. Therefore, the details of this rare case are reported herein.
Adult ; Congenital Abnormalities ; Crying ; Electromyography ; Facial Nerve ; Facies ; Fascia Lata ; Gene Deletion ; Humans ; Infant, Newborn ; Lip ; Mouth ; Paralysis ; Parturition ; Transplants

Axial mesodermal dysplasia complex (AMDC) arises in variable combinations of craniocaudal anomalies such as musculoskeletal deformities, neuroschisis, or rhombencephalic developmental disorders. To the best of our knowledge, the co-existence of AMDC with associated musculoskeletal anomalies, medullary neuroschisis with mirror movements, and cranial nerve anomalies has not yet been reported. Here, we report the case of a 4-year-old boy whose clinical features were suggestive of Goldenhar syndrome and Poland syndrome with Sprengel deformity. Moreover, he showed mirror movements in his hands suspected of rhombencephalic malformation, and infranuclear-type facial nerve palsy of the left side of his face, the opposite side to the facial anomalies of Goldenhar syndrome. After conducting radiological studies, he was diagnosed with medullary neuroschisis without pontine malformations and Klippel-Feil syndrome with rib anomalies. Based on these findings, we propose that clinical AMDC can be accompanied by a wide variety of musculoskeletal defects and variable degrees of central nervous system malformations. Therefore, in addition to detailed physical and neurological examinations, imaging studies should be considered in AMDC.
Central Nervous System ; Child, Preschool ; Congenital Abnormalities ; Cranial Nerves ; Facial Nerve ; Goldenhar Syndrome ; Hand ; Humans ; Klippel-Feil Syndrome ; Male ; Medulla Oblongata ; Mesoderm* ; Neurologic Examination ; Paralysis ; Poland Syndrome ; Rhombencephalon ; Ribs

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

OBJECTIVES: The clinical features of various facial deformities in Korean leprosy patients were evaluated according to the type of leprosy. METHODS: One hundred ninety six patients with leprosy were examined for various facial deformities using a nasal speculum, endoscope, and digital camera. The frequency and severity of external nasal deformities and septal perforations were evaluated according to the type of leprosy. Eye deformities, ear deformities, and facial palsy were also assessed. RESULTS: Seventy-one patients (36.2%) displayed external nasal deformities: 28 minimal contractures, three cartilage contractures, two bony-cartilage contractures, and 38 skin defects. The external nasal deformity and severe form deformity in lepromatous types were more frequent compared to other types (P<0.05 for each variable). Twenty-three patients (9%) displayed septal perforations, among whom 11 had cartilaginous perforations and 12 had bony-cartilaginous perforations. The frequency of septal and bony-cartilaginous perforations did not differ significantly between the types of leprosy (P>0.05 for each variable). Sixty-one patients (31.1%) had eye deformities and 19 patients (9.7%) had facial nerve palsy, common in the borderline type. No cases of ear deformities were observed. CONCLUSION: Korean patients had characteristic deformities according to the type of leprosy. They were different from those seen in the prior analyses of Caucasian populations.
Cartilage ; Congenital Abnormalities ; Contracture ; Ear ; Endoscopes ; Eye ; Facial Nerve ; Facial Paralysis ; Humans ; Leprosy ; Paralysis ; Skin ; Surgical Instruments

The tear trough deformity and the palpebromalar groove are characteristic appearances in midface aging. The aim of this study is to suggest the direction of aging process in midface by sampling survey in the Koreans. Sampling survey was conducted to 480 subjects who had preoperative pictures of the midface in Koreans. The excluding criteria of the subjects were with prior oculoplastic surgery, facial bone fracture, facial palsy, previous rejuvenation procedure, Grave's oculopathy and some medical history affecting eyelid position. Prevalence of tear trough deformity and palpebromalar groove in each subject, and age-related change in prevalence were analyzed. Prevalence of the tear trough deformity and the palpebromalar groove was 57.92% and 44.58%, respectively. Prevalence of tear trough deformity was higher than that of palpebromalar groove in both males and females(Chi-Square test, p<0.05). The tear trough deformity and the palpebromalar groove showed a strong positive correlation with age. All the subjects with the palpebromalar grooves had the tear trough deformities. From the results of survey, it suggested that the aging process of midface of the Korean, from medial to lateral direction, differed from that in westerns.
Aging ; Congenital Abnormalities ; Eyelids ; Facial Bones ; Facial Paralysis ; Humans ; Male ; Prevalence ; Rejuvenation

With the advancement of modern medicine, there have been increasing demands for reconstructive surgeries. The operative technique using free flaps makes it possible for reconstructive surgeons to restore various defects and deformities more precisely. Furthermore, functional problems, such as facial paralysis and lymphedema, can be managed with microsurgical procedures. The need for the composite tissue allograft, including that of the face, has been noticed, and this transplantation surgery required complex microsurgical procedures. With the very high success rate of free flap and popularization of perforator flap, which provides improved outcomes, reconstructive microsurgeons now play major role in various reconstructive fields.
Congenital Abnormalities ; Facial Paralysis ; Free Tissue Flaps ; History, Modern 1601- ; Korea ; Lymphedema ; Microsurgery ; Perforator Flap ; Transplantation, Homologous ; Transplants

facial nerve palsy occur, but these rarely develop. Facial nerve palsy causes the muscles involved in facial expression to depress, which results in ocular dryness or retinal damage. When facial nerve palsy develops, early management involving steroid medication and physical therapy is effective. In the case of severe damage, surgical intervention should be considered. A 20-year-male patient came to the oral and maxillofacial surgery department for orthognathic surgery. The mandible was set back by BSSRO under general anesthesia. Facial nerve palsy was observed on the left side of the face: steroid and vitamins were administered early and physical therapy was performed daily. These forms of management can aid in function and allow for gradual esthetic recovery. Presumed causes were excessive soft tissue retraction or soft tissue injury by the osteotome at the horizontal osteotomy of the ramus. Careful dissection, retraction and a precise osteotomy are needed for protection of the facial nerve. If nerve damage is observed, early management can help in the recovery of facial nerve function and esthetics.]]>
Anesthesia, General ; Congenital Abnormalities ; Esthetics ; Facial Expression ; Facial Nerve ; Facial Nerve Injuries ; Humans ; Mandible ; Mandibular Nerve ; Mouth ; Muscles ; Open Bite ; Orthognathic Surgery ; Osteotomy ; Paralysis ; Porphyrins ; Retinaldehyde ; Soft Tissue Injuries ; Surgery, Oral ; Temporomandibular Joint Disorders ; Vitamins

BACKGROUND: Damage of the facial nerve, especially buccal and marginal mandibular branches, causes facial palsy and paralytic deformity of the lips such as lower lip ectropion, lip drooping, deviation of the mouth, inability of closing mouth, and the loss of the nasolabial folds. OBJECTIVE: To find out the best surgical method to correct paralytic deformity of the lips. METHODS: We reviewed retrospectively the various surgical treatment modalities of the paralytic deformity of the lips performed in The Institute for Leprosy Research for 13 years. RESULTS: One hundred and twenty five surgical procedures were performed in 80 patients with Hansen's disease. Of these, the static method, dermal suspension flap, was done in 15 cases, the dynamic methods were done in 64 cases, and others were done in 46 cases. All patients showed postoperatively clinical improvement above the average. Two patients received reoperation or additional procedures due to relapse of the condition. CONCLUSIONS: The dynamic method using tensor fascia lata was superior to other treatment modalities.
Congenital Abnormalities ; Ectropion ; Facial Nerve ; Facial Paralysis ; Fascia Lata ; Humans ; Leprosy ; Lip ; Mouth ; Recurrence ; Reoperation ; Retrospective Studies

An 11-year-old boy underwent thoracolumbar surgery to correct a deformity caused by congenital kyphoscoliosis from the 6th thoracic vertebra to the 2nd lumbar vertebra. During a screw insertion, some tore and cerebro-spinal fluid (CSF) leaked. After CSF leakage, the amplitude of the motor evoked potential in the left lower extremity was reduced by 90% compared to baseline value, but there was no nerve damage at the surgical site. His post-surgical mental status did not recover completely. Brain computed tomography revealed a subdural hemorrhage in the inter-hemispheric fissure, with both tentorium and right frontotemporooccipital and diffuse brain edema. On the 4th postoperative day, mental status recovered to near alertness, but upper motor strength was grade II, right lower motor strength was grade II and left lower motor strength was grade I. Right hemifacial palsy was also noted. At 2.5 months after surgery, right facial palsy remained, but motor function recovered to near normal levels with conservative care.
Brain ; Brain Edema ; Child ; Congenital Abnormalities ; Evoked Potentials, Motor ; Facial Paralysis ; Hematoma, Subdural ; Hematoma, Subdural, Acute ; Humans ; Lower Extremity ; Paralysis ; Scoliosis ; Spine