RARE AND INTERESTING CASE OF GOLDENHARS SYNDROME IN A 3 YEARS OLD MALE
It was An Austrian OPHTHALMOLOGIST Maurice Goldenhar Who Was The first In The Year 1850 To Have Described A Syndrome Complex Charsterised By Cong Presence of a Preauricular Skin Tag Or Appendage Some Times Presence Of Squint Anoohthalmos Coloboma Of Upper Lid Iris Retina Astigmatism Microphthalmos Blephrophymosis Syndrome May Also Be Seen However It Is Very Rare G H S Is Also Termed As Occulo Auriculo Vertebral Syndrome Or Dysplasia And Cranio Facial Dysplasia 80 To 85 Percent Cases Of G H S Syndrome Are Normal From Visual And Mental Facality Point Of View It Is Only In 5 To 15 Percent Cases Of G. H S Their Are Additional Cong Anomolies lWhich Are Due To Incomlplete Development of Ist And Second Branchial Arch Due To Detect in the Genes Not Inhereted Autosomal Dominant And Recessive Or May Be Due To Maternal Gestational D M Or Exposure To Rubella And Influenza Viruses Or Intake Of Drugs Like Cocaine Thalidomide Retinioc Acid Antibiotics One Has To Look For These Additional Cong Anomolies lWhich Are Facial Asymetry High Arched Palate Hare Lip Cleft palate Defects In Kidney like Double Ureters And Hydronephrosis Defects In Spine And Limbs Cong Heart Underlying Orbital Involement Dental Anamolies Hearing Impairment C N S Involvement 7th Nerve Involement Ipselateral Involement Of Trigemenal Nuclii And Trigeminal Anasthesia Impairment of Memory Mental Facality And Intelegence So We Have To Do Following Investegations Ultrasound Abdomen X-rays Spine And Limbs ECHOCARDIOGRAPHY M R I Orbits Dental examination Hearing Test E. E G Scenerio Of Dermiod s Usually Unilateral Can Be Bilateral Though Rare Can Involve Entire Cornea Or May Be Confined To Conjuctiva Only Prevalence 1 In 10 000 Inferotemporal Site Is The Commonest About 70 Percent Male Female Ratio Is 3 To2 Case Report A 3Years Old Make Child Was Seen By Me In My Office Few Years back With Parents Having Noticed Palish White LImbal Lesion At The Inferotemporal site Reye since Birth With Associated Cong Presence of A Preauricular Skin Tag left Ear This was Diagnosed Of The Child Having G H S F T Delivered Male Child From Non Cousin Married Parents No History Of Exposure To Oxygen Or Jaundice Breast Fed Normal Mile Stones Vision Mydriatic Refraction FUNDII All Norma No Other Associated Cong Anamolies So This Child With Grade 1 Limbal Dermiod Normal Intelligence No Other Associated Cong Anamolies Only needed Parentral Counseling And Observations However If Limbal Dermiod Involves Pupillary Area and Thretens Vision Surgery Is The Modality Of Treatment Which Is Both Visual And Cismotic They Are Lamellar Kerataplasty Autograft Stem Cell Graft Aminiituc Membrane Graft Smile Lenticule Tatooing And Fibrin Glue Refrences Their Are Goldenhas Support Groups Their Are Families Of G H S 17 Such Families Are Seen In Greece Children Born In Middle East During Gulf War Born in the Different Military Hospitals Had High Incedence Of G H S Mittal et All Reported 3 Cases Of Optic Nerve Drusens Associated With G H S If Patients Of G. H S Have Facial Asymetry Hare Lip Cleft Palate And Preauricular Skin Tag Or Appendage They Should be Referred To Plastic And Facio Maxillary consultant's For Plastic Repair
Goldenhars Syndrome is genetic disorder and patience environment and patience friends circle and depression and drugs addicted patience some patients intelligence taking drugs depending on your mind activities like bad or good thoughts, Childhood behaviour ya angree behaviour, love problem, family problem, money problem, this bad habits improve than treatment first meditation and second medicine.. patients slowly slowly bheviour changes improve eyes sight with spects and eyes exercise, diet vitamin And protein fully diet.. and care.. sleeping 8 hours.. better results seen patients behaviour and eyes sight and eyes drops uses .. for eyes nourishment..
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A coloboma describes conditions where normal tissue in or around the eye is missing from birth. Coloboma comes from the Greek word that means “curtailed.” The eye develops quickly during a fetus’ first three months of growth. A gap, known as the choroidal fissure, appears at the bottom of the stalks that eventually form the eye. This fissure generally closes by the seventh week of gestation. If it does not close, a coloboma or space forms. A coloboma can affect one or both eyes. If both eyes are involved, it can affect them the same way or differently. There are different types of coloboma, depending on the part of the eye affected: Eyelid coloboma- A piece of the upper or lower eyelid is missing. Lens coloboma- A piece of the lens, the part of the eye that focuses light onto the retina, is missing. Macular coloboma- The macula is the central part of the retina responsible for daylight, fine and color vision. In this coloboma, the macula fails to develop normally. Optic nerve coloboma- In this coloboma, the optic nerve, the bundle of fibers that relay light signals to the brain, is hollowed out, reducing vision. Uveal coloboma- The uvea is the middle layer of the eye. This coloboma can affect the iris, the colored part of the eye, giving it a distinct keyhole or cat-eye appearance. Chorio-retinal coloboma- In this coloboma, part of the retina (the light-sensitive tissue lining the back of the eye) is missing.
Dr. Dinesh Choudhary2 Likes12 Answers - Login to View the image
Goldenhar syndrome Corneo limbal dermoid Pre auricular tags .(b/l).+hypoplasia of mandible. Maxilla ..Sen neural deafness were present
Dr. Kunal Verma4 Likes10 Answers - Login to View the image
SPOTTER- 6yr old girl, presented with following findings- B/L. Diagnosis, associated syndromes/ conditions and management. What is the embryologic significance
Dr. Murari M5 Likes19 Answers - Login to View the image
Guess the diagnosis of this Rare Case Doctors A 28-day-old male child was brought to the ophthalmology outpatient department with a complaint of redness in both eyes for the past 10 days. It was not associated with any discharge from either of the eyes. The patient was the first child of a 22-year-old woman who delivered at the same hospital at term. There was a history of delayed crying at birth. He was born of a nonconsanguinous marriage and the pedigree analysis revealed no other affected member in the family. The developmental milestones were age appropriate except for hearing deficit as he did not turn his head to sound. He was breast feeding with no difficulty in swallowing. The child was 37 cm long with a body weight of 3 kg. The skull was normal except for an open anterior fontanelle. The facial characteristics were bilaterally symmetrical but abnormal. There were multiple facial dysmorphic features including downward-slanting eyes, malar hypoplasia, mandibular hypoplasia (micrognathia), a large fishlike mouth (macrostomia) with a high arched palate . The tongue was retropositioned but the child had no difficulty in feeding and swallowing. The child had malformed and crumpled bilateral pinnae. The right ear had external auditory canal stenosis and left ear had external auditory canal atresia. He also had pectus carinatum and chest indrawing. Auscultation revealed vesicular breath sounds with prolonged expiration. The abdomen was scaphoid, and there was no other abnormality in the limbs, back, and genitals. The ophthalmological examination revealed antimongoloid slant of the palpebral fissures. The child had bilateral lower lid coloboma (lateral one third) with absence of eyelashes in the entire extent of the lower lids . The inferior conjunctiva was congested in both eyes with superficial haze of the inferior cornea (exposure keratopathy) Source- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5525627/
Dr. Vivek Jain3 Likes18 Answers - Login to View the image
Female 2kg delivered normally at term without any significant maternal history.mother age is 40 years having 4 children all r normal. This baby is tachypnic and maintaining saturation at minimal oxygen.neonate has micrognathia rounded eyes left microtia grade 2 almost and right sided is grade 3.there is murmur which is pansystolic. Other systemic review is unremarkable Ur opinion Plz
Dr. Anirudha Kulkarni10 Likes19 Answers