Background:Progress in medical branches that has taken place since the first child with Goldenhare syndrome (GS) had been described in 1952 by Maurice Goldenhar,facilitated better understanding of this congenital defe...Background:Progress in medical branches that has taken place since the first child with Goldenhare syndrome (GS) had been described in 1952 by Maurice Goldenhar,facilitated better understanding of this congenital defect.It also gave new perspectives and the opportunity to achieve satisfactory treatment results,mainly due to development of surgical techniques.Data sources:Based on the literature and own experience,we discussed the phenotype of presentation of GS,ethiopathogenesis,genetic counselling and treatment with particular emphasis on surgery correction of hemifacial microsomia.Results:The spectrum of GS abnormalities ranges from mild to severe ones and include patients with barely noticeable facial asymmetry to very pronounced facial defect with more or less severe abnormalities of internal organs and/ or skeleton.It is characterized most commonly by impaired development of eyes,ears,lips,tongue,palate,mandible,maxifla,zygomatic and orbital structures and deformations of the teeth structures.Ethiopathogenesis is multifactorial and dependent on genetic and environmental factors but there are still many unknowns about the syndrome which should be revealed.Conclusions:Patients with GS due to a large variety of abnormalities and different severity of symptoms pose a challenge for clinicians.All of this necessitate an individual approach to each single patient and involvement a team of specialists in treatment planning.It is a complex,long-lasting,multidisciplinary process and should be divided into stages,according to patient's age,as well as the extent and severity of observed abnormalities.Neonatologists and pediatricians are involved in care of these patients from the onset.展开更多
We describe a female Nigerian infant of otherwise healthy parents with no prior history of congenital anomalies who was born with left-sided cleft lip and palate, left anophthalmia, malformed left auricle, an atrial s...We describe a female Nigerian infant of otherwise healthy parents with no prior history of congenital anomalies who was born with left-sided cleft lip and palate, left anophthalmia, malformed left auricle, an atrial septal defect, and abnormal fusion of the medial ends of her ribs prior to their insertion into the sternum. She presented on account of respiratory difficulty following bouts of feed aspiration. Cautious feeding and the need for respiratory support are important aspects of care in patients with Goldenhar syndrome.展开更多
Goldenhar syndrome, also known as oculo-auriculo-vertebral dysplasia, is characterized by a wide range of congenital anomalies, such as micrognathia, oral cavity malformations, and vertebral anomalies and always cause...Goldenhar syndrome, also known as oculo-auriculo-vertebral dysplasia, is characterized by a wide range of congenital anomalies, such as micrognathia, oral cavity malformations, and vertebral anomalies and always causes difficult airway. Awake intubation often cannot be used on children because of inadequate cooperation. In addition, children have higher rates of oxygen consumption, significantly shortening the period of apnea that can be safely tolerated. This study reported a successful orotracheal intubation using the McGrath？ video laryngoscope combined with a fiberoptic bronchoscope （FOB） in a pediatric patient with Goldenhar syndrome.展开更多
A 7-year-old male patient reported in our neurosurgery OPD with chief complaints of swelling in occipital region. The swelling was gradually increasing in size as per history given by patient’s attendant. Antenatal a...A 7-year-old male patient reported in our neurosurgery OPD with chief complaints of swelling in occipital region. The swelling was gradually increasing in size as per history given by patient’s attendant. Antenatal and birth history was uneventful. Developmental milestones were normal. Ear examination showed left sided pre auricular tag. Hearing was normal. Eye examination showed right eye limbal dermoid. Limbs examination showed syndactyly of 5th finger. Cardiovascular, respiratory and oral examination was normal. His height and weight were within normal limit. Chest X-ray was normal. Skeletal survey did not show any vertebral deformities. The karyotype was normal. The MRI brain showed a defect of size 1.3 cm in the occipital region through which cerebellum was seen herniating. The mass was surrounded by hypodense collection with multiple thickened septae within suggestive of CSF collection with thickened meninges. Patient underwent surgery and cystic portion was removed, with preservation of the occipital and cerebellar parenchyma and closure of defect was done. Patient responded well that there were no post operative complications and child was discharged on the 10th postoperative day. Hence, based on clinical and radiographic findings, a diagnosis of Goldenhar syndrome was made.展开更多
Goldenhar syndrome(GS)is a rare congenital disorder that is characterized by incomplete development of the ear,eye,nose,soft palate,lip,and jaw.It is also called oculo-auriculo-vertebral syndrome of Goldenhar,the name...Goldenhar syndrome(GS)is a rare congenital disorder that is characterized by incomplete development of the ear,eye,nose,soft palate,lip,and jaw.It is also called oculo-auriculo-vertebral syndrome of Goldenhar,the name describes the common structural problems seen with the eyes,ears,and vertebrae.The outlook for children with GS varies but is generally very positive.Most children can expect to live a healthy life once treatments have been administered.However,certain congenital heart defects seen in this syndrome such as ventricular septal defect(VSD),persistence of arterial conduct,tetralogy of Fallot,and big vessel transposition can lead to sudden death during childhood.These defects are usually diagnosed during intrauterine life by means of fetal echography,leading to termination of such pregnancy or necessary corrective measures after the birth of such child.If such a child dies,it will be certified by the treating pediatrician.Thus,an autopsy pathologist rarely comes across such deaths.One such case of a 45-day-old female infant suffering from craniofacial deformity who became breathless,cyanotic,and died on the way to the hospital is being discussed here.The right ventricle showed double outlets,arising from it were the pulmonary artery and aorta.A small subaortic VSD was seen.Generalized hypoplasia of all internal viscera on the right side was observed.展开更多
Goldenhar syndrome(oculo-auriculo-vertebral spectrum)is a rare congenital anomaly of unclear etiology and characterized by craniofacial anomalies such as hemifacial microsomia,auricular,ocular and vertebral anomalies....Goldenhar syndrome(oculo-auriculo-vertebral spectrum)is a rare congenital anomaly of unclear etiology and characterized by craniofacial anomalies such as hemifacial microsomia,auricular,ocular and vertebral anomalies.In many cases,this syndrome goes unnoticed due to a lack of knowledge about its features and because of its associated wide range of overlapping anomalies.Herewith,we present a case of Goldenhar syndrome in a 21-year-old male,who presented all the classical signs of this rare condition.This article also summarizes the characteristic features of patients with Goldenhar syndrome.展开更多
Key Facts Synonyms:Congenital aural dysplasia,microtia Definition:Stenosis or atresia of external auditory canal(EAC)with associatedauricle(externalear)deformity.May be isolatedmalformation,orpartofacranial-facialsynd...Key Facts Synonyms:Congenital aural dysplasia,microtia Definition:Stenosis or atresia of external auditory canal(EAC)with associatedauricle(externalear)deformity.May be isolatedmalformation,orpartofacranial-facialsyndrome,suchasCrouzon's,Goldenhar'sorPierreRobin.Classicimagingappearance(CT):(1)Bony or membranous stenosis or atresia of EAC;(2)Underdeveloped mastoid air cells and small middle ear cavity;(3)Malformationsofmalleusandincusarecommon.展开更多
Hemifacial microsomia and Goldenhar syndrome pose unique challenges to the craniofacial surgeon.The O.M.E.N.S.classification provides a description of the craniofacial features.For the“M”of O.M.E.N.S.(the mandible),...Hemifacial microsomia and Goldenhar syndrome pose unique challenges to the craniofacial surgeon.The O.M.E.N.S.classification provides a description of the craniofacial features.For the“M”of O.M.E.N.S.(the mandible),the Pruzansky-Kaban classification provides therapeutic guidelines for joint and face reconstruction.A sequence of standard procedures,including temporomandibular joint reconstruction,facial rotation surgery,gluteal fat grafting,and patient-specific titanium implantation,each have their intricacies.The author provides his expert opinion,acquired over thirty years of experience,with an emphasis on descriptions of and solutions for ten problematic issues.展开更多
文摘Background:Progress in medical branches that has taken place since the first child with Goldenhare syndrome (GS) had been described in 1952 by Maurice Goldenhar,facilitated better understanding of this congenital defect.It also gave new perspectives and the opportunity to achieve satisfactory treatment results,mainly due to development of surgical techniques.Data sources:Based on the literature and own experience,we discussed the phenotype of presentation of GS,ethiopathogenesis,genetic counselling and treatment with particular emphasis on surgery correction of hemifacial microsomia.Results:The spectrum of GS abnormalities ranges from mild to severe ones and include patients with barely noticeable facial asymmetry to very pronounced facial defect with more or less severe abnormalities of internal organs and/ or skeleton.It is characterized most commonly by impaired development of eyes,ears,lips,tongue,palate,mandible,maxifla,zygomatic and orbital structures and deformations of the teeth structures.Ethiopathogenesis is multifactorial and dependent on genetic and environmental factors but there are still many unknowns about the syndrome which should be revealed.Conclusions:Patients with GS due to a large variety of abnormalities and different severity of symptoms pose a challenge for clinicians.All of this necessitate an individual approach to each single patient and involvement a team of specialists in treatment planning.It is a complex,long-lasting,multidisciplinary process and should be divided into stages,according to patient's age,as well as the extent and severity of observed abnormalities.Neonatologists and pediatricians are involved in care of these patients from the onset.
文摘We describe a female Nigerian infant of otherwise healthy parents with no prior history of congenital anomalies who was born with left-sided cleft lip and palate, left anophthalmia, malformed left auricle, an atrial septal defect, and abnormal fusion of the medial ends of her ribs prior to their insertion into the sternum. She presented on account of respiratory difficulty following bouts of feed aspiration. Cautious feeding and the need for respiratory support are important aspects of care in patients with Goldenhar syndrome.
文摘Goldenhar syndrome, also known as oculo-auriculo-vertebral dysplasia, is characterized by a wide range of congenital anomalies, such as micrognathia, oral cavity malformations, and vertebral anomalies and always causes difficult airway. Awake intubation often cannot be used on children because of inadequate cooperation. In addition, children have higher rates of oxygen consumption, significantly shortening the period of apnea that can be safely tolerated. This study reported a successful orotracheal intubation using the McGrath？ video laryngoscope combined with a fiberoptic bronchoscope （FOB） in a pediatric patient with Goldenhar syndrome.
文摘A 7-year-old male patient reported in our neurosurgery OPD with chief complaints of swelling in occipital region. The swelling was gradually increasing in size as per history given by patient’s attendant. Antenatal and birth history was uneventful. Developmental milestones were normal. Ear examination showed left sided pre auricular tag. Hearing was normal. Eye examination showed right eye limbal dermoid. Limbs examination showed syndactyly of 5th finger. Cardiovascular, respiratory and oral examination was normal. His height and weight were within normal limit. Chest X-ray was normal. Skeletal survey did not show any vertebral deformities. The karyotype was normal. The MRI brain showed a defect of size 1.3 cm in the occipital region through which cerebellum was seen herniating. The mass was surrounded by hypodense collection with multiple thickened septae within suggestive of CSF collection with thickened meninges. Patient underwent surgery and cystic portion was removed, with preservation of the occipital and cerebellar parenchyma and closure of defect was done. Patient responded well that there were no post operative complications and child was discharged on the 10th postoperative day. Hence, based on clinical and radiographic findings, a diagnosis of Goldenhar syndrome was made.
文摘Goldenhar syndrome(GS)is a rare congenital disorder that is characterized by incomplete development of the ear,eye,nose,soft palate,lip,and jaw.It is also called oculo-auriculo-vertebral syndrome of Goldenhar,the name describes the common structural problems seen with the eyes,ears,and vertebrae.The outlook for children with GS varies but is generally very positive.Most children can expect to live a healthy life once treatments have been administered.However,certain congenital heart defects seen in this syndrome such as ventricular septal defect(VSD),persistence of arterial conduct,tetralogy of Fallot,and big vessel transposition can lead to sudden death during childhood.These defects are usually diagnosed during intrauterine life by means of fetal echography,leading to termination of such pregnancy or necessary corrective measures after the birth of such child.If such a child dies,it will be certified by the treating pediatrician.Thus,an autopsy pathologist rarely comes across such deaths.One such case of a 45-day-old female infant suffering from craniofacial deformity who became breathless,cyanotic,and died on the way to the hospital is being discussed here.The right ventricle showed double outlets,arising from it were the pulmonary artery and aorta.A small subaortic VSD was seen.Generalized hypoplasia of all internal viscera on the right side was observed.
文摘Goldenhar syndrome(oculo-auriculo-vertebral spectrum)is a rare congenital anomaly of unclear etiology and characterized by craniofacial anomalies such as hemifacial microsomia,auricular,ocular and vertebral anomalies.In many cases,this syndrome goes unnoticed due to a lack of knowledge about its features and because of its associated wide range of overlapping anomalies.Herewith,we present a case of Goldenhar syndrome in a 21-year-old male,who presented all the classical signs of this rare condition.This article also summarizes the characteristic features of patients with Goldenhar syndrome.
文摘Key Facts Synonyms:Congenital aural dysplasia,microtia Definition:Stenosis or atresia of external auditory canal(EAC)with associatedauricle(externalear)deformity.May be isolatedmalformation,orpartofacranial-facialsyndrome,suchasCrouzon's,Goldenhar'sorPierreRobin.Classicimagingappearance(CT):(1)Bony or membranous stenosis or atresia of EAC;(2)Underdeveloped mastoid air cells and small middle ear cavity;(3)Malformationsofmalleusandincusarecommon.
文摘Hemifacial microsomia and Goldenhar syndrome pose unique challenges to the craniofacial surgeon.The O.M.E.N.S.classification provides a description of the craniofacial features.For the“M”of O.M.E.N.S.(the mandible),the Pruzansky-Kaban classification provides therapeutic guidelines for joint and face reconstruction.A sequence of standard procedures,including temporomandibular joint reconstruction,facial rotation surgery,gluteal fat grafting,and patient-specific titanium implantation,each have their intricacies.The author provides his expert opinion,acquired over thirty years of experience,with an emphasis on descriptions of and solutions for ten problematic issues.
