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CASE REPORT OF RARE CASE IF GOLDENHAR SYNDROME IN A 3 YEARS OLD MAKE CHILD TITLE PROF TITLE PROFILE CASE REPORT AFFILIATION AUTHOURS NAME DR GOWHAR AHMAD SR CON OPHTHALMOLOGIST FLORENCE HOSPITAL CHANAPORA SRINAGAR KASHMIR UNIVERSITY OF J AND K COUNTRY INDIA EMAIL ADDRESS gowhar.ahmad1948@gmail.com KEY WORDS CONG LIMBAL DERMIOD PREAURICULAR SKIN TAG PREAURICULAR APPENDAGE SQUINT ANOPHTHALMOS COLOBOMAS OF LID IRIS RETINA ASTIGMATISM MICROPHTHALMOS BLEPHROPHMOSIS SYNDTOME FACIAL ASYMETRY HIGH ARCHED PALATE HARE KIO CLEFT PALATE DEFECTS IN KIDNEY DOUBLE URETERS HYDRONEPHROSIS DEFECTS IN LIMBS SPINE CING HEART UNDERLYING ORBITAL INVOLEMENT DENTAL ANAMOLIES HEARING DEFECT IMPAIRMENT OF MEMORY MENTAL FACALITY 7TH N INVOLVEMENT TRIGEMINAL ANASTHESIA ABASTRACT IT WAS MAURICCE GOLDENHAR AN AUSTRIAN OPHTHALMOLOGIST IN THE YEAR 1850 WAS THE FIRST TO DESCRIBE THE SYNDROME COMPLEX CHARETERISED BY CONG PRESENCE OF LIMBAL DERMIID WITH CONG ASSOCIATED ORESENCE OF PREAURICULAR SKIN TAG OR APPENDAGE SOMETIMES PRESENCE OF SQUINT ANOPHTHALMOS COLOBOMAS OF THE U LID IRIS RETINA ASTIGMATISM MICROPHTHALMOS BLEPHROPHMOSIS SYNDROME MAY ALSO BE SEEN HOWEVER IT IS VERY RARE G H S IS ALSO TERMED AS OCULO AURICULO VERTEBRAL SYNDROME AND CRANIIFACIAL SYNDROME INVOLVIMG HEAD FACE EAR NOSE SOFT PALATE AND MANDIBLE 80 TO 85 CASES OF G H S ARE NORMAL from.visual AND MENTAL FACALITY POINT OF VIEW IT IS OMLY IN 10 TO 15 PERECENT CASES OF G H S THEIR SRE ADDITIONAL CONG ANAMOLIES WHICH ARE DUE TO INCOMPLETE DEVOLPMENT OF 1ST AND SECOND BRANCHIAL ARCH DUE TO DEFECTS IN GENES NOT INHERETED AUTOSOMAL DOMINANT AND RECESSIVE ALSO DUE TO MATERNAL GESTATIONAL D M IR EXPOSURE TO RUBELLA HEAMOPHILUS CYTOMEGALIC INC VIRUS OR INTAKE OF THALIDOMIDE COCAINE AND RETINIOC ACID IN THE FIRST TRIMESTER OF PREGNANCY ONE HAS TO WORK UP FOR THESE ANAMOLIES IN THE FIRM OF USG ABDOMEN XRAY LIMBS SPINE ECHOCARDIOGRAPHY MRI ORBITS OPHTHALMIC EXAMINATION DENTAL EXAMINATION HEARING TESTS E E G CONG DERMIODS ARE USUALLY UNILATERAL CAN BE BILTERAL THOUGH RARE CAN INVOLVE ENTIRE CORNEA BUT MAY BE CONFINED TI CONJUCTIVA ONLY INCIDENCE 1 IN 10 000 INFEROTEMPORAL SITE IS TGE COMMONEST 70 PERCENT MALE FEMALE RATIO 3 TO 2 GRADED ACCORDING TO CONEAL INVOLVEMENT GRADE 1 EPETHELIAL INVOLVEMENT GRADE 2 DESMETS MEMBRANE INVOLEMENT GRADE 3 INVOLVEMENT OF ENTIRE ANT SEGMENT CASE REPORT 3 YEARS OLD MALE CHILD WAS SEEN BY ME SOME TIME AGO WITH PARENTS HAVING NOTICED SMALL PALISH WHITE LESION IN THE INFEROTEMPRAL SITE IF LIMBUS R EYE WITH ASSOCIATED CONG PRESENCE OF L SIDED PREAURICULAR SKIN TAG SYNDROMECOMPKEX DIAGNOSTIC OF G H S FT DELIVERED CHILD FROM NON COUSIN. MARRIED COUPLE FOLLOWING LSCS NO.HISTORY OF EXPOSURE TO OXYGEN JAUNDICE BREAST FED NORMAL MIKE STONES VISION MYDRIATIC REFRACTION AND FUNDII NORMAL NO OTHER ASSOCIATED CONG ANAMOLIES THIS CHILD HAD LIMBAL DERMIOD NOT INVOLVING VISUAL AXIS NEEDED ONLY REASSURANCE FOR THE PARENTS AND OBSERVATION HOWEVER IF THE LIMBAL DERMIOD INVOLVES VISUAL TREATMENT IS SURGICAL WHICH IS BOTH VISUAL AND COSMOTIC SURGICAL MODALITIES ARE LAMELLAR KERATAPLASTY AUTOGRAFT STEM CELL GRAFT SMILE LENTICULE TATOOINING FIBRIN GLUE HERE AFTER EXCITON OF DERMIOD.ITNIS TATTOED TO GET ORIGINAL COLOUR THEN CORNEAL LENTICULE IS OUT IN SITU HELD IN POSITION WITH FIBRIN GLUE SINCE NO STICHES ARE APPLIED SO PIST OPERATIVE PAIN AND ASTIGMATISM IS LESS DISCUSSION G H S IS A GENETIC DISORDER CHARETERISED BY CONG PRESENCE OF CONG LIMBAL DERMIOD WITH CIG ASSOCIATED PRESENCE OF PREAURICULAR SKIN TAG OR APPENDAGE WAS DESCRIBED FIRST BY AN AUSTRIAN OPHTHALMOLOGIST MAURICCE GOLDENHAR IN THE YEAR 1850 80 TO 85 PERCENT CASES OF G H S ARE NORMAL FROM VISUAL AND MENTAL FACALITY POINT OF VIEW ONLY 10 TO.15 PERCENT CASES OF ADDITIONAL CONG ANAMOLIES REFENCES WE GAVE G H S SUPPORT GROUPS THEIR ARE FAMILIES OF G H S 17 DUCH FAMILIES IG G H S ARE SEEN IN GREECE CHILDREN BORN IN MIDDLE EAST IN GULF WAR BORN IN DIFFERENT MILIATRY HOSPITALS HAD HIGH INCEDENCE OF G H S MITTAL ETAL IN YEAR 1968 IN INDIAN JOURNAL OF OPHTHALMOLOGY REPORTED 3 CASES OF OPTIC NERVE DRUSENS ASSOCIATED WITH G H S
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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
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SPOTTER- 6yr old girl, presented with following findings- B/L. Diagnosis, associated syndromes/ conditions and management. What is the embryologic significance
Dr. Murari M5 Likes20 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
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