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1.
Rev. chil. cir ; 71(1): 15-21, feb. 2019. tab, ilus
Article in Spanish | LILACS | ID: biblio-985373

ABSTRACT

Resumen Introducción: Conocer en detalle la inervación interna del músculo temporal humano permite realizar múltiples técnicas quirúrgicas y tratamientos de patologías que involucran al territorio craneofacial. Si bien en la literatura se ha descrito la inervación interna del músculo temporal humano basado en micro-disección directa, la técnica de tinción de Sihler es una herramienta ventajosa para el estudio anatómico ya que permite observar ramos nerviosos pequeños sin perder su relación tridimensional con las fibras musculares. Objetivo: Describir la distribución nerviosa al interior del músculo temporal humano en cadáveres al aplicar el método de Sihler y analizar su asociación anátomo quirúrgica. Materiales y Método: Ocho músculos temporales humanos previamente disecados fueron sometidos al método de tinción de Sihler. Cada una de las muestras se observó bajo lupa estereoscópica y transiluminación; finalmente para su descripción se dividió al músculo en tres regiones. Resultados: Se determinó la presencia de tres troncos nerviosos principales: el temporal profundo anterior, el temporal profundo medio y temporal profundo posterior, los que discurren de profundo a superficial. Además, se observaron ramos colaterales de menor calibre del nervio temporal profundo posterior que en forma de arco comunican las tres regiones del músculo. Conclusión: Se describió una distribución nerviosa interna común para los músculos estudiados en las tres dimensiones del espacio, conocimiento útil para innovar en terapias clínico-quirúrgicas del territorio craneofacial.


Introduction: Knowing in detail the inner innervation of the human temporal muscle allows to perform multiple surgical techniques and treatments of pathologies that involve the craniofacial territory. Although the internal innervation of the human temporal muscle based on direct microdissection has been described in the literature, the Sihler staining technique is an advantageous tool for anatomical study since it allows observing small nerve branches without losing its three-dimensional relationship with muscle fibers. Aim: To describe the nervous distribution within the human temporal muscle in cadavers by applying the Sihler method and analyzing its surgical anatomical association. Materials and Method: Eight previously dissected human temporal muscles were subjected to the Sihler staining method. Each one of the samples was observed under stereoscopic magnification and transillumination, finally for its description the muscle was divided into three regions. Results: The presence of three main nervous trunks was determined: the anterior deep temporal, the deep medium temporal and the posterior deep temporal, those that run from deep to superficial. In addition, collateral branches of lesser caliber of the posterior deep temporal nerve that in the form of an arc communicate the three regions of the muscle were observed. Conclusion: A common internal nervous distribution was described for the muscles studied in the three dimensions of space, useful knowledge to innovate in clinical-surgical therapies of the craniofacial territory.


Subject(s)
Humans , Temporal Muscle/physiopathology , Temporal Muscle/diagnostic imaging , Nerve Net , Temporal Muscle/surgery , Craniofacial Abnormalities/pathology , Neural Pathways
2.
An. bras. dermatol ; 92(5): 729-730, Sept.-Oct. 2017. graf
Article in English | LILACS | ID: biblio-887029

ABSTRACT

Abstract: Ascher's syndrome consists of double lip, blepharochalasis and sometimes non-toxic thyroid enlargement. It is a rare, benign, rarely reported, and sometimes misdiagnosed condition that most often affects patients under 20 years old. The etiology remains unknown, although factors such as trauma, hormonal dysfunction and heredity have been suggested. Treatment based on surgical intervention is indicated to improve aesthetics or function. The presented case shows a patient diagnosed with Ascher's syndrome based on clinical findings such as double lip and blepharochalasis.


Subject(s)
Humans , Female , Middle Aged , Craniofacial Abnormalities/diagnosis , Eyelids/abnormalities , Lip/abnormalities , Photography , Craniofacial Abnormalities/pathology , Eyelids/pathology , Lip/pathology
3.
Rev. bras. cir. plást ; 31(2): 273-277, 2016. ilus
Article in English, Portuguese | LILACS | ID: biblio-1575

ABSTRACT

INTRODUÇÃO: A incidência da microssomia craniofacial é de 1 em 5600 nascidos vivos. É a segunda anomalia craniofacial mais comum após as fissuras labiais e palatinas. A fissura número 7 está associada entre 17 a 62% dos casos de microssomia hemifacial e começa na comissura labial, podendo prolongar-se até a linha capilar pré-auricular. As deformidades da orelha externa vão desde excesso de pele pré-auricular até ausência completa da orelha. A comissuroplastia está indicada em pacientes com macrostomia ou fissura facial lateral verdadeira. O objetivo é demonstrar dois casos de macrostomia e fazer uma revisão da literatura sobre o tema. MÉTODOS: Em nosso estudo descrevemos dois casos de macrostomia tratados com retalhos de mucosa e plástica em Z. RESULTADOS: Obtivemos um ótimo reposicionamento das comissuras nos dois pacientes, com excelente resultado estético. CONCLUSÃO: A técnica utilizada é de fácil reprodutibilidade e corrige a macrostomia estética e funcionalmente.


INTRODUCTION: The incidence of craniofacial microsomia is 1 in 5600 live births. This is the second most common craniofacial anomaly after cleft lip and palate. Tessier cleft 7 is associated with 17% to 62% of cases of hemifacial microsomia. It begins on the labial commissure and may extend to the pre-auricular capillary line. Deformities of the external ear range from excessive pre-auricular skin to complete absence of the ear. Commissuroplasty is indicated in patients with macrostomia or true lateral facial cleft. The objective is to present two cases of macrostomia and perform a review of related literature. METHODS: In this study, we describe two cases of macrostomia treated with mucous flaps and zetaplasty. RESULTS: We obtained optimal repositioning of labial commissures in two patients, with excellent aesthetic results. CONCLUSION: The technique used is easily reproducible, and aesthetically and functionally corrects macrostomia.


Subject(s)
Humans , Male , Child, Preschool , History, 21st Century , Therapeutics , Dental Fissures , Cleft Lip , Craniofacial Abnormalities , Plastic Surgery Procedures , Face , Free Tissue Flaps , Lip , Macrostomia , Mucous Membrane , Therapeutics/methods , Dental Fissures/surgery , Cleft Lip/surgery , Cleft Lip/therapy , Craniofacial Abnormalities/surgery , Craniofacial Abnormalities/pathology , Plastic Surgery Procedures/methods , Face/abnormalities , Face/surgery , Free Tissue Flaps/surgery , Lip/abnormalities , Lip/surgery , Macrostomia/surgery , Macrostomia/pathology , Mucous Membrane/surgery
4.
Rev. bras. cir. plást ; 30(3): 429-438, 2015. ilus, tab
Article in English, Portuguese | LILACS | ID: biblio-1152

ABSTRACT

INTRODUÇÃO: O enxerto de gordura, atualmente, é usado amplamente na cirurgia plástica estética e reparadora como um preenchimento natural. Na cirurgia crânio-maxilofacial há uma diversidade de pacientes com deformidades congênitas e adquiridas que podem ser muito beneficiados com a lipoenxertia. MÉTODOS: Os pacientes foram submetidos à lipoenxertia para reconstrução e correção de defeitos da face no INTO em 2012 e 2013 utilizando uma técnica padronizada. Nossa avaliação foi clínica e subjetiva, levando em conta a opinião do paciente. Especificamente nos pacientes com enoftalmo tardio secundário à sequela de trauma, realizamos exoftalmometria com o exoftalmômetro de Hertel e tomografia no pré e no pós-operatório para avaliar objetivamente nossos resultados. RESULTADOS: Vinte e dois pacientes receberam tratamento. A maioria foi do gênero feminino (77%). O volume do gordura aplicado variou de 1 ml até 37 ml, com média de 15 ml por sessão. A quantidade de sessões variou de 1 a 4. A lipoenxertia foi usada como tratamento único em apenas 30% dos casos. Fizemos lipoenxertia retrobulbar variando de 6 a 10 ml o volume enxertado, sendo que em um paciente realizamos duas sessões. Houve um ganho de 3 a 7 mm de projeção do globo ocular. Na avaliação tomográfica constatamos também aumento da projeção ocular de 4 mm e 2,2 mm. O resultado clínico foi pobre. CONCLUSÃO: A lipoenxertia é um procedimento simples, barato e reprodutível que deve fazer parte do armamentário do cirurgião plástico e do cirurgião craniofacial. Pode ser uma alternativa nos difíceis casos de enoftalmo tardio.


INTRODUCTION: The fat graft is currently widely used in aesthetic plastic and reconstructive surgery as a natural filler. In cranio-maxillofacial surgery, fat grafting can be very beneficial for patients with various congenital and acquired deformities. METHODS: We included patients who had undergone fat grafting for reconstruction and correction of defects in the face during 2012 and 2013 by using a standard technique. Our assessment was both clinical and subjective, taking into account the patient's opinion. In patients with late enophthalmos secondary to trauma sequelae, we conducted exophthalmometry with an exophthalmometer (Hertel) and preoperative and postoperative CT to objectively evaluate our results. RESULTS: Twenty-two patients were treated. Most were female (77%). The volume of fat grafted varied from 1 ml to 37 ml, with a mean of 15 ml per session. The number of sessions ranged from 1 to 4. Fat grafting was used as a single treatment in only 30% of cases. We performed retrobulbar fat grafting ranging from 6 to 10 ml in volume; in one patient, the grafting was carried out over two sessions. There was a gain of 3 to 7 mm in projection of the eyeball. In tomographic evaluation, an increased eye projection of between 2.2 mm and 4 mm was found. However, the clinical outcome was poor. CONCLUSION: Fat grafting is a simple, inexpensive and reproducible procedure that should be part of the plastic and craniofacial surgeons' inventory. It may be an alternative in difficult cases of late enophthalmos.


Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , History, 21st Century , Skull , Surgery, Plastic , Surgery, Plastic/methods , Syringes , Enophthalmos , Craniofacial Abnormalities , Transplants , Evaluation Study , Face , Fats , Surgical Wound/surgery , Skull/surgery , Syringes/adverse effects , Enophthalmos/surgery , Enophthalmos/pathology , Craniofacial Abnormalities/surgery , Craniofacial Abnormalities/pathology , Transplants/surgery , Face/surgery , Fats/therapeutic use , Surgical Wound , Surgical Wound/therapy
5.
Rev. bras. cir. plást ; 29(1): 66-70, jan.-mar. 2014.
Article in English, Portuguese | LILACS | ID: biblio-81

ABSTRACT

INTRODUÇÃO: Dentre os tumores benignos do esqueleto craniofacial, a displasia fibrosa caracteriza-se pelo crescimento progressivo e acometimento de jovens, acarretando deformidade funcional e estética. Esse trabalho analisa aspectos clínicos e prognósticos de pacientes com essa patologia, submetidos a tratamento cirúrgico. MÉTODOS: Análise retrospectiva de 19 pacientes com displasia fibrosa craniofacial, acompanhados de janeiro de 1997 a dezembro de 2011, tratados com remodelamento ósseo e ressecção cirúrgica. Revisão da literatura sobre. RESULTADOS: A distribuição etária variou de 8 a 65 anos, com média de 21,75 anos. Dez pacientes (52,7%) eram do sexo feminino. A forma poliostótica predominou, com 15 casos (78,9%). Entre os ossos acometidos destacaram-se esfenóide, etmóide e frontal, nas formas poliostóticas; e maxila e zigoma, nas monostóticas. A principal queixa foi de assimetria da face. Um paciente evoluiu com diminuição de acuidade visual. O tratamento baseou-se na ressecção cirúrgica e reconstrução com enxerto, quando doença localizada, e no desgaste e remodelamento ósseo, em formas poliostóticas. Em apenas um caso (5,2%), com compressão de nervo óptico, foi necessário acesso intracraniano. Reabordagem cirúrgica, por crescimento tumoral, foi necessária em três pacientes. Como complicações, tivemos um caso de lagoftalmo e epicanto no pós-operatório de paciente tratado por cirurgia com acesso infraorbitário. Ausência de outras intercorrências no seguimento a curto e longo prazo. Os resultados de preservação de função e recuperação de contorno facial foram satisfatórios. CONCLUSÃO: Essa experiência, em concordância com a literatura, permite concluir que a cirurgia é eficaz na abordagem de casos selecionados de displasia fibrosa craniofacial.


INTRODUCTION: Fibrous dysplasia is benign tumor of the craniofacial skeleton that primarily affects young patients. It is characterized by the progressive growth of benign fibrous tumors with resulting functional and aesthetic deformities. This study assesses the clinical and prognostic features in patients with fibrous dysplasia who underwent surgical treatment at our institution. METHODS: Retrospective analysis of 19 patients with craniofacial fibrous dysplasia, treated between January 1997 and December 2011 with bone remodeling and surgical resection. We also review the literature regarding fibrous dysplasia. RESULTS: Patients ranged between 8-65 years old, with a mean age of 21.75 years. Ten patients (52.7%) were women. The polyostotic form was predominant and present in15 cases (78.9%). The sphenoid, ethmoid, and frontal bones were most commonly involved in the polyostotic form and the mandibular and zygomatic bones were most commonly involved in the monostotic form. The main complaint was asymmetry of the face. One patient developed decreased visual acuity. Treatment was based on surgical resection and graft reconstruction in the localized form of the disease, and bone abrasion and remodeling in the polyostotic form. Intracranial access was necessary in only one case (5.2%) where the optic nerve was compressed. Repeat surgical treatment due to recurrent tumor growth was necessary in three patients. The only complication occurred in a patient who developed lagophthalmos and epicanthus postoperatively after undergoing surgery using infraorbital access. No other complications occurred during short- and long-term follow-up. Functional preservation and facial contour recovery outcomes were satisfactory. CONCLUSION: Our experience, along with that of other investigators, demonstrates that surgery is effective in treating selected cases of craniofacial fibrous dysplasia.


Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , Middle Aged , Aged , History, 21st Century , Postoperative Complications , Case Reports , Retrospective Studies , Craniofacial Abnormalities , Plastic Surgery Procedures , Evaluation Study , Craniofacial Fibrous Dysplasia , Postoperative Complications/surgery , Craniofacial Abnormalities/surgery , Craniofacial Abnormalities/pathology , Plastic Surgery Procedures/adverse effects , Plastic Surgery Procedures/methods , Craniofacial Fibrous Dysplasia/surgery , Craniofacial Fibrous Dysplasia/pathology , Craniofacial Fibrous Dysplasia/therapy
6.
Rev. bras. cir. plást ; 29(1): 57-65, jan.-mar. 2014.
Article in English, Portuguese | LILACS | ID: biblio-76

ABSTRACT

Introdução: Síndrome de Parry-Romberg (SPR) é caracterizada pela atrofia hemifacial progressiva que, muitas vezes, resulta em graves distúrbios estéticos e funcionais. Embora existam escalas de gravidade, nenhuma delas é completamente ideal para auxiliar na abordagem terapêutica destes pacientes. O objetivo deste estudo foi delinear as estratégias cirúrgicas para o tratamento da SPR baseado em um novo sistema de classificação de gravidade da doença. Método: Trata-se de uma análise retrospectiva dos pacientes com SPR operados em 2005-2011. As abordagens cirúrgicas foram individualizadas de acordo com a escala de gravidade clínica baseada na evolução da doença: tipos I (envolvimento da epiderme, derme e tecido subcutâneo); II (tipo I + envolvimento muscular); e III (tipo I + II + envolvimento ósseo). Quatro (28,57%) pacientes com SPR tipo I, 6 (42,85%) tipo II e 4 (28,57%) tipo III foram incluídos. Resultado: Um total de 47 procedimentos foi realizado. Gordura livre foi enxertada em todos os pacientes. Todos os pacientes do tipo II e 1 (25%) do tipo III foram submetidos a enxertos dermogordurosos. Enxertos ósseos com retalhos de fáscia têmporo-parietal foram aplicados no tratamento de todos os pacientes do tipo III. Um (25%) paciente do tipo III foi submetido à cirurgia ortognática. Houve melhora global na aparência facial em todos os pacientes, sem complicações relacionadas aos procedimentos. Conclusão: O sistema de classificação de gravidade proposto para a SPR pode facilitar a decisão terapêutica e resultados parcialmente satisfatórios podem ser alcançados com a combinação de técnicas cirúrgicas de acordo com a gravidade da doença.


Introduction: The Parry-Romberg Syndrome (PRS) is characterized by progressive hemifacial atrophy that often leads to severe esthetic and functional difficulties. Although there are systems for grading disease severity, none have proven ideal in optimizing the therapeutic approach to these patients. This study aimed to establish the surgical strategies for the treatment of PRS based on a new system for severity grading of the disease. Methods: This retrospective study included PRS patients undergoing surgery between 2005 and 2011. The surgical strategies were adapted for each patient according to a clinical severity grading system based on disease progression: type I, affecting the epidermis, dermis, and subcutaneous tissue; type II, type I + muscle involvement; and type III, Types I+ II + bone involvement. The sample included four patients (28.57%) with PRS type I, six patients (42.85%) with PRS type II, and four patients (28.57%) with PRS type III. Results: Forty-seven procedures were performed. Free-fat grafts were used in all patients. Dermal fat grafts were used in all type II patients and one type III patient (25%). Bone grafts with temporoparietal fascia flaps were performed for the treatment of all type III patients. One type III patient (25%) underwent orthognathic surgery. All patients were improved in their overall facial appearance and there were no procedure-related complications. Conclusion: Our proposed system for grading PRS severity can facilitate the choice of therapeutic approaches and with a combination of surgical techniques based on the severity of the disease partially satisfactory outcomes can be attained.


Subject(s)
Humans , Male , Female , Child , Adolescent , Surgery, Plastic , Case Reports , Medical Records , Retrospective Studies , Craniofacial Abnormalities , Transplants , Evaluation Study , Face , Facial Bones , Facial Hemiatrophy , Surgery, Plastic/methods , Medical Records/standards , Craniofacial Abnormalities/surgery , Craniofacial Abnormalities/pathology , Transplants/surgery , Face/surgery , Facial Bones/surgery , Facial Hemiatrophy/surgery , Facial Hemiatrophy/etiology , Facial Hemiatrophy/pathology
7.
SQUMJ-Sultan Qaboos University Medical Journal. 2012; 12 (4): 537-538
in English | IMEMR | ID: emr-126020
8.
Rev. cuba. estomatol ; 47(3): 295-314, jul.-sep. 2010.
Article in Spanish | LILACS, CUMED | ID: lil-584508

ABSTRACT

Las deformidades craneofaciales se deben en su mayoría a alteraciones del crecimiento y desarrollo, traumatismos y neoplasias. Con el objetivo de describir el tratamiento quirúrgico integral de estas y las modificaciones y aportes realizados a las técnicas craneofaciales tradicionales, se realizó un estudio descriptivo transversal en 46 pacientes tratados por el equipo interdisciplinario de cirugía craneofacial del Hospital Pediátrico Universitario Juan M Márquez, en el período comprendido entre mayo de 2003 a marzo de 2007. La edad promedio de los pacientes intervenidos fue de 6,3 años. Se realizó una veintena de técnicas quirúrgicas. La más utilizada fue la suturectomía coronal con hemiavance en antifaz y craneoplastia frontal, para el 15,2 por ciento; seguida de la suturectomía coronal con avance en antifaz y craneoplastia frontal, para el 10,9 por ciento. El 8,9 por ciento de los pacientes necesitó osteotomía Le Fort III para distracción del tercio medio. Los aportes introducidos fueron: la plicatura radiada de la duramadre con bipolar en el 75,0 por ciento de los craneotomizados, incisión puntiforme de la duramadre para descomprimir hipertensión encefálica transoperatoria o retraer encéfalo para osteotomías de base de cráneo en el 64,3 por ciento de los craneotomizados; fractura en tallo verde a nivel del pterium, en el colgajo en antifaz para las técnicas de Marshall, usada en el 83,3 por ciento de los braquicéfalos o plagiocéfalos; el avance sólo del lado afectado en el 100 por ciento de las plagiocefalias, con modificación de la técnica de Marshall, entre otras, para un total de 9 modificaciones a los procederes quirúrgicos. Hubo ausencia de complicaciones asociadas a éstas, con más de 2 años de evolución posoperatoria(AU)


Most of he craniofacial deformities are caused by development and growth alterations, traumata and neoplasms. To describe the integral surgical treatment of above deformities and the modifications and contributions carried out to traditional craniofacial techniques, a cross-sectional and descriptive study was conducted in 46 patients seen by the craniofacial surgery multidisciplinary staff from Juán Manuel Máquez University Children Hospital from May, 2003 to March, 2007. Mean age of the patients operated on was of 6.3 years. Twenty Surgical tehniques were performed where the more used was he coronal suturectomy with a mask hemi-advance and frontal cranioplasty for the 15.2 percent, followed by the coronal suturectomy with the two above techniques for te 10.9 percent. The 8.9 percent of patients need LeFort III osteotomy for distraction of half-third. The contributions included: radiate plication of dura mater with the bipolar type in the 75,0 percent of craniotomy patients, punctiform incision of dura mater to decompress a transoperative encephalic hypertension or to retract the encephalon for osteotomies on skull base in the 64,3 percent of craniotomy patients, greenstick fracture at level of pterion in the mask flap for the Marshal's techniques used in the 83,3 percent of the brachycephalous or plagiocephaly with advance only of inolved side in the 100 percent of plagiocephalies with a modification of Marshall's technique among others, for a total o 9 modifications to surgical procedures. There weren't complications associated with these procedures and more than two years of posoperative cours(AU)


Subject(s)
Humans , Male , Female , Child , Craniofacial Abnormalities/surgery , Craniofacial Abnormalities/pathology , Osteotomy, Le Fort/adverse effects , Maxillary Fractures/surgery , Epidemiology, Descriptive , Cross-Sectional Studies
9.
Indian J Pediatr ; 2009 Dec; 76(12): 1270-1271
Article in English | IMSEAR | ID: sea-142458

ABSTRACT

Four case records of patients with Seckel Syndrome (SS) were retrieved. Typical of bird headed dwarfism was seen in all. Chromosome 18 deletion was seen in one child with SS. MRI abnormalities were detected in 3 patients. Cytogenetic studies and neuroimaging is likely to provide important diagnostic and prognostic information.


Subject(s)
Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Child, Preschool , Chromosome Deletion , Chromosomes, Human, Pair 18 , Craniofacial Abnormalities/genetics , Craniofacial Abnormalities/pathology , Dwarfism/genetics , Dwarfism/pathology , Female , Humans , Infant , Intellectual Disability/genetics , Intellectual Disability/pathology , Male , Microcephaly/genetics , Microcephaly/pathology , Syndrome
10.
São Paulo med. j ; 124(5): 278-279, Sept. 2006. ilus
Article in English | LILACS | ID: lil-440164

ABSTRACT

CONTEXT: The occipital condyles of the skull articulate with the superior articular facets of the atlas vertebra and form an important junction between the cranium and the vertebral column. The morphological features of occipital condyles are relevant in biomechanical, anatomical and clinical studies. OBJECTIVE: To describe the anatomical profile of unusual occipital condyles detected in a bone specimen. CASE REPORT: The present osteological study provides a detailed morphological description of unusual occipital condyles showing uneven and serrated surfaces and also displaying longitudinal and transverse grooves on the left and right sides respectively. The case study also discusses the clinical importance of such anomalies. Precise anatomical knowledge of the occipital condyles is important for any craniovertebral operative procedures such as resection of the occipital condyles.


CONTEXTO: Os côndilos occipitais do crânio se articulam com as facetas superiores da vértebra atlas e formam uma importante junção entre o crânio e a coluna vertebral. As características morfológicas dos côndilos occipitais são relevantes em estudos biomecânicos, anatômicos e clínicos. OBJETIVO: Descrever o perfil anatômico de côndilos occipitais incomuns observados em uma amostra óssea cadavérica. RELATO DE CASO: O estudo osteológico aqui apresentado mostra a detalhada descrição morfológica de côndilos occipitais incomuns com superfícies desproporcionais e serradas, e também com sulcos longitudinais e transversais à esquerda e à direita, respectivamente. O estudo do caso também discute a importância clínica dessas anomalias. O conhecimento anatômico preciso dos côndilos occipitais é importante para qualquer procedimento cirúrgico como, por exemplo, a ressecção de côndilos occipitais.


Subject(s)
Humans , Occipital Bone/anatomy & histology , Atlanto-Occipital Joint/abnormalities , Atlanto-Occipital Joint/anatomy & histology , Cadaver , Craniofacial Abnormalities/pathology , Occipital Bone/abnormalities
11.
J Indian Soc Pedod Prev Dent ; 2006 Mar; 24(1): 45-9
Article in English | IMSEAR | ID: sea-115069

ABSTRACT

Presented here is a case of a 8 year old boy with typical clinical manifestations of Acrocallosal syndrome. The characteristic features of this syndrome are craniofacial abnormalities, distinctive digital malformation, mental retardation. The clinical and major nosologic aspects of this condition are discussed.


Subject(s)
Abnormalities, Multiple , Child , Corpus Callosum/abnormalities , Craniofacial Abnormalities/pathology , Fingers/abnormalities , Growth Disorders/pathology , Humans , Male , Intellectual Disability/pathology , Syndrome , Toes/abnormalities
12.
Rev. argent. cir. plást ; 12(1): 33-37, 2006. ilus
Article in Spanish | LILACS | ID: lil-482524

ABSTRACT

El objetivo del trabajo es presentar la modificación de una técnica que permite realizar la resección completa de estas malformaciones de alto flujo con mínimo sangrado.


Subject(s)
Humans , Craniofacial Abnormalities/surgery , Craniofacial Abnormalities/pathology , Arteriovenous Malformations , Hemangioma, Capillary
13.
Braz. dent. j ; 17(3): 249-254, 2006. ilus, tab
Article in English | LILACS | ID: lil-442376

ABSTRACT

This article reports the case of a Brazilian child diagnosed with Kabuki make-up syndrome (KMS), addressing the clinical features observed, with emphasis on the disease-specific oral and craniofacial manifestations. The patient had the distinctive KMS craniofacial appearance, mild delayed mental development, fingers with prominent fingertip pads and visual deficit. The dental findings included fusion of the left mandibular incisors (central and lateral), gemination of the right mandibular central incisor and congenital agenesis of the right mandibular lateral incisor, in the primary dentition, as well as absence of both permanent mandibular lateral incisors. Fusion and gemination have not been previously referred to as typical dental features in KMS. The detection of unique dental findings, such as missing teeth and dental anomalies of form in the primary dentition by means of clinical and radiographic examinations, might consist of a helpful diagnosis parameter in identifying children who may have milder forms of Kabuki syndrome.


Este artigo relata o caso de uma criança portadora da Síndrome de Kabuqui e descreve as características clínicas observadas, com ênfase nas manifestações craniofaciais e intrabucais. O paciente apresentava características craniofaciais clássicas da síndrome, deficiência mental leve, déficit visual e atraso no desenvolvimento dental. Os achados intrabucais incluíam a fusão dos incisivos inferiores do lado esquerdo (central e lateral), geminação do incisivo central inferior direito e agenesia do incisivo lateral inferior direito na dentição decídua bem como ausência dos incisivos laterais inferiores permanentes. Fusão e geminação ainda não foram descritas em pacientes com a síndrome. Assim, a detecção de achados dentais como agenesias e anomalias de forma na dentição decídua, por meio de exames clínicos e radiográficos, são importantes para auxíliar no diagnóstico de crianças com uma forma moderada da Síndrome de Kabuqui.


Subject(s)
Child, Preschool , Humans , Male , Craniofacial Abnormalities/pathology , Tooth Abnormalities/pathology , Abnormalities, Multiple , Anodontia/pathology , Fused Teeth/pathology , Incisor/abnormalities , Syndrome , Tooth, Deciduous/abnormalities
14.
Rev. bras. patol. oral ; 4(1): 38-41, jan.-abr. 2005. ilus
Article in Portuguese | LILACS, BBO | ID: lil-415723

ABSTRACT

Paciente de 24 anos, sexo feminino, portadora de sinais característicos da Displasia Cleidocraniana foi submetida a exames clínico e radiográfico, os quais evidenciaram anormalidades na aparência física e constituição esquelética da mesma, confirmando a suspeita diagnóstica. O tratamento proposto foi excisão cirúrgica de numerosos dentes inclusos, para viabilizar posterior reabilitação protética. A peça cirúrgica foi encaminhada para exame histopatológico, para avaliar a presença de lesão cística e possíveis distúrbios na constituição morfológica dos dentes removidos. Diante da raridade desta síndrome, este artigo objetiva relatar os aspectos gerais da doença e a terapêutica utilizada


Subject(s)
Humans , Female , Craniofacial Abnormalities/etiology , Craniofacial Abnormalities/pathology , Maxillofacial Abnormalities/pathology , Cleidocranial Dysplasia , Cleidocranial Dysplasia/therapy , Bone Diseases/etiology , Bone Diseases/pathology , Dentigerous Cyst/pathology , Dentigerous Cyst
15.
Indian J Pediatr ; 2003 Jan; 70(1): 105-7
Article in English | IMSEAR | ID: sea-78375

ABSTRACT

An association of Amniotic Band Disruption Sequence and Mermaid Syndrome in a newborn having multiple congenital anomalies is being reported. The newborn had aberrant string like tissues attached to the amputed fingers and toes. Adhesions of amniotic bands had disrupted the fetal parts especially anteriorly in the midline, causing multiple anomalies. Apart from these features of Amniotic Band Disruption Sequence, the newborn had complete fusion of the lower limbs by cutaneous tissue, a characteristic of Mermaid Syndrome (Sirenomelia). Associated malformations were anal stenosis, rectal atresia, small horseshoe kidney, hypoplastic urinary bladder and a bicomuate uterus. The single umbilical artery had a high origin, arising directly from the aorta just distal to the celiac axis, which is unique to sirenomelia. Theories put forward regarding the etiopathogenesis of both the conditions are discussed.


Subject(s)
Abnormalities, Multiple/pathology , Amniotic Band Syndrome/pathology , Craniofacial Abnormalities/pathology , Ectromelia/etiology , Fatal Outcome , Female , Humans , Infant, Newborn , Limb Deformities, Congenital/pathology , Syndrome
16.
In. Psillakis, Jorge Miguel; Zanini, Silvio Antonio; Mélega, José Marcos; Costa, Edgard Alves; Cruz, Ricardo Lopes. Cirurgia craniomaxilofacial: osteotomias estéticas da face. Rio de Janeiro, Medsi, 1987. p.163-77, ilus.
Monography in Portuguese | LILACS, BBO | ID: lil-256022
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