scholarly journals Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
U. D. Shrestha ◽  
S. Adhikari
Keyword(s):  
Congenital Cataract ◽  
Multidisciplinary Approach ◽  
Goldenhar Syndrome ◽  
Hemifacial Microsomia ◽  
Pediatric Ophthalmology ◽  
Pupillary Reflex ◽  
Craniofacial Microsomia ◽  
Branchial Arches ◽  
Vertebral Anomalies ◽  
Bilateral Congenital Cataract

Craniofacial microsomia (CFM) includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Patients with hemifacial microsomia and epibulbar dermoids are said to have Goldenhar syndrome (GHS). Four-month-old boy with whitish pupillary reflex presented with the features of GHS in pediatric ophthalmology clinic. The child had ocular and auricular manifestations. There were no vertebral anomalies, but he had bilateral congenital cataract. The peculiarity of this case is the presence of the bilateral total congenital cataract, in association with CFM. There is absence of epibulbar dermoid or lipodermoid in the eyes, although the child had features of GHS. In addition to it, anesthetic intubation was smooth in this case. Any case diagnosed with CFM and/or GHS needs treatment through multidisciplinary approach, consultation in ophthalmology department is one of them.

scholarly journals Do you know this syndrome?

2012 ◽  
Vol 87 (3) ◽  
pp. 495-497
Author(s):  
Luiz Maurício Costa Almeida ◽  
Michelle dos Santos Diniz ◽  
Lorena dos Santos Diniz
Keyword(s):  
Multidisciplinary Approach ◽  
Goldenhar Syndrome ◽  
Clinical Aspects ◽  
Genetic Syndrome ◽  
Live Births ◽  
Mandibular Hypoplasia ◽  
Radiologic Findings ◽  
Branchial Arches ◽  
Skin Tags ◽  
Systemic Manifestations

Goldenhar syndrome is a sporadic or inherited genetic syndrome characterized by limbal dermoids, preauricular skin tags and mandibular hypoplasia. Vertebral abnormalities may occur. The incidence of this syndrome ranges from 1 in 5,600 to 1 in >20,000 live births. It consists of abnormalities involving the first and second branchial arches. The etiology of the syndrome is heterogeneous. Diagnosis should be based principally on clinical aspects, which should be associated with the patient's systemic conditions and radiologic findings. Treatment depends on the patient's age and systemic manifestations, with a multidisciplinary approach often being required.

scholarly journals Goldenhar syndrome: a rare entity

2017 ◽  
Vol 4 (5) ◽  
pp. 1897 ◽  
Author(s):  
Tariq Harris ◽  
Mohammed Abdul Bashith ◽  
Manas M. Shanbhag ◽  
Moideen Faheem
Keyword(s):  
Multidisciplinary Approach ◽  
Systemic Treatment ◽  
Obstructive Hydrocephalus ◽  
Severe Form ◽  
Goldenhar Syndrome ◽  
Branchial Arches ◽  
Hydrocephalus Treatment ◽  
Ophthalmic Treatment ◽  
Cns Malformations ◽  
Limbal Dermoid

Goldenhar syndrome was first described by Maurice Goldenhar in 1952 it involves abnormalities in the first and second branchial arches. This syndrome appears to have varying degree of presentation from mild to severe form. Different pathophysiological mechanisms have been proposed .Oculo auriculo vertebral syndrome which includes reduction in blood flow resulting in focal haemorrhage in the first and second branchial arches. In addition there may be cardiac vertebral and CNS defects. A male baby 30-32 wks, preterm SGA was admitted in NICU for evaluation of Congenital Malformations which includes swelling of the anterior border of both eyes with b/l preauricular ear tags, malformed pinna, high arched palate and micrognatia ophthalmology examination revealed b/l limbal dermoid inferotemporal aspect. ECHO done revealed ASD 4mm.CT scan showed obstructive hydrocephalus. Treatment of the condition varies according to the severity. Ophthalmic treatment aimed first because of amblyogenic risk. Craniofacial surgery in view of severe micrognathia systemic treatment may be related to cardiac, renal and CNS malformations. Goldenhar Syndrome is a rare congenital anomaly, with cosmetic defects whose treatment may pose numerous challenges with multidisciplinary approach for optimal management.

scholarly journals Oculo-auriculovertebral Spectrum with Radial Anomaly: A Rare Case Report

2016 ◽  
Vol 27 (2) ◽  
pp. 49-52
Author(s):  
Dileep Kumar ◽  
Anil Kumar Gupta ◽  
Siddharth Rai ◽  
Vijai Prakash Sharma
Keyword(s):  
Rare Case ◽  
Nerve Palsy ◽  
Developmental Disorder ◽  
Facial Nerve Palsy ◽  
Goldenhar Syndrome ◽  
Unilateral Hearing Loss ◽  
Rare Presentation ◽  
Branchial Arches ◽  
Rare Case Report ◽  
Vertebral Anomalies

Abstract Oculo-auriculovertebral spectrum (OAVS) or the Goldenhar syndrome is a rare developmental disorder with plethora of congenital anomalies which mostly affects structures arising from the first and the second branchial arches. The affected structures include cheekbone, jaws, mouth eyes, ear and vertebrae. The case which we are presenting here had classical features such as microsomia, unilateral microtia, microphthalmia and facial nerve palsy along with vertebral anomalies with additional signs as unilateral hearing loss and radial limb anomalies. OAVS with radial defect and limb abnormalities is a rare presentation and thus reported‥

scholarly journals A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
K. N. Venkateshwara Prasad ◽  
Arvind Rajha ◽  
Pradeep Kumar Vegi
Keyword(s):  
Central Nervous System ◽  
Developmental Disorder ◽  
Monozygotic Twins ◽  
Goldenhar Syndrome ◽  
Craniofacial Anomalies ◽  
Hemifacial Microsomia ◽  
Disease Phenotype ◽  
Vertebral Anomalies ◽  
Central Nervous System Defects ◽  
Mz Twins

Goldenhar syndrome is a rare developmental disorder characterised by hemifacial microsomia, epibulbar tumours, ear malformation, and vertebral anomalies. As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins varies with craniofacial anomalies, cardiac, vertebral, and central nervous system defects sporadically. We report a case of monozygotic female twins discordant for Goldenhar syndrome with hemifacial microsomia and the dysplasia of auricular pinna.

scholarly journals THE CLINICAL CASE OF HEMIFACIAL MICROSOMIA IN THE NEWBORN BOY FROM MOTHER WITH Z-21

2021 ◽  
Vol 11 (2(40)) ◽  
pp. 64-67
Author(s):  
I.V. Lastivka ◽  
A.G. Babintseva ◽  
V.V. Antsupova ◽  
А.І. Peryzhniak ◽  
І.V. Koshurba ◽  
...  
Keyword(s):  
Clinical Case ◽  
Septal Defect ◽  
Neonatal Period ◽  
Hemifacial Microsomia ◽  
Internal Factors ◽  
Vascular Abnormalities ◽  
Branchial Arches ◽  
The Face ◽  
The Right

Hemifacial Microsomia (HFM) is a term used to identify facial deformities associated with the development ofthe first and second pairs of branchial arches, characterized by underdevelopment of one half of the face. One typeof hemifacial microsomia is oculo-auriculo-vertebral dysplasia or Goldenhar syndrome.The incidence of HFM is 1:3500-1:7000 of live births and occurs in 1 case per 1000 children with congenitaldeafness. The ratio of boys to girls is 3:2. The etiology and type of inheritance is studied insufficiently. There are threepossible pathogenetic models: vascular abnormalities and hemorrhages in the craniofacial region, damage of Meckel'scartilage, and abnormal cell development of the cranial nerve crest. Environmental factors, maternal internal factors,and genetic factors (OTX2, PLCD3, and MYT1 mutations) may also cause the development of hemifacial microsomia.The article demonstrates a clinical case of hemifacial microsomia in a newborn boy from a mother with Z-21 inthe form of deformation of the left auricle with atresia of the auditory canal and "false" ears on the right, combinedwith congenital anomaly of heart (atrial septal defect) and brain (hypoplasia of the corpus callosum).Emphasis is placed on the need of involving a multidisciplinary team of specialists in the management of thispatient both in the neonatal period and in the system of subsequent follow-up.

scholarly journals Dandy-Walker variant associated with bilateral congenital cataract

2021 ◽  
Vol 11 (4) ◽  
pp. 277
Author(s):  
GopalSingh Charan ◽  
GursharanSingh Narang ◽  
Arshpuneet Kaur ◽  
Ekamjot Kaur
Keyword(s):  
Congenital Cataract ◽  
Bilateral Congenital Cataract

Atypical Presentation of Goldenhar Syndrome

2021 ◽  
Vol 29 (1) ◽  
pp. 98-101
Author(s):  
Shubhrakanti Sen ◽  
Debmalya Maity ◽  
Arnab Koley
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Chromosomal Analysis ◽  
Goldenhar Syndrome ◽  
Ocular Involvement ◽  
Atypical Presentation ◽  
Multifactorial Inheritance ◽  
Mandibular Hypoplasia ◽  
Exact Etiology ◽  
Vertebral Anomalies

Introduction In 1952 Goldenhar described a case with triad of pre auricular tags, mandibular hypoplasia and ocular (epibulbar) dermoid and described the case as Goldenhar Syndrome. Case Report A case of Goldenhar Syndrome without ocular involvement is presented. Discussion Goldenhar syndrome is also known as oculoauriculovertebral dysplasia due to presence of additional vertebral anomalies. Exact etiology of this disease is not known. Most of the cases are   sporadic, though autosomal recessive/dominant and multifactorial inheritance has also been suggested. Chromosomal analysis shows no abnormalities.

Simultaneous Surgery in Bilateral Congenital Cataract

2010 ◽  
Vol 20 (3) ◽  
pp. 629-630
Author(s):  
Nikolas G. Ziakas ◽  
Areti N. Vartholomaiou
Keyword(s):  
Congenital Cataract ◽  
Simultaneous Surgery ◽  
Bilateral Congenital Cataract

scholarly journals Goldenhar syndrome associated with genital tract abnormality

2019 ◽  
Vol 12 (8) ◽  
pp. e230686
Author(s):  
Jennifer Christina Benjamin
Keyword(s):  
Respiratory System ◽  
Genital Tract ◽  
Reproductive Tract ◽  
Case Reports ◽  
Organ Involvement ◽  
Goldenhar Syndrome ◽  
Numerous Case ◽  
Tract Abnormality ◽  
Vertebral Anomalies ◽  
Urinary Abnormalities

Goldenhar syndrome, also known as oculo-auriculo-vertebral syndrome, has been described since 1952. Traditionally, the syndrome has been described as having eye, ear, facial and vertebral anomalies. However, numerous case reports and reviews have highlighted multi-organ involvement, including cardiovascular, gastrointestinal, respiratory system and urinary abnormalities. We describe a 13 years old who has a reproductive tract abnormality, which has not been reported previously as a finding of Goldenhar syndrome.

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