ATYPICAL MANEFEDTATIONS OF G H SYNDROME

ATYPICALAN ARTICLE ON G H S IT IS A SYNDROME COMPLEX CHARETERISED VY MANIFESTATIONS OF GOLDENHARD SYNDROME I HAVE POSTED AN ARTICLE ON G H S WHICH IS CHARETERISED BY CONG PRESENCE OF LIMBAL DERMOIS AND ASSOCIATED CONG PRESENCE OF PRE AURICULAR SKIN TAG AND PREAURICULAR APPENDAGE LIMBAL DERMOID IS USUALY UNILATERAL INFEROTEMPORAL SITE IS THE COMMONEST 70 PERCENT PREVELENCE 1 IN 10 000 GRADED AS 1 2 3 ACCORDING TO CORNEA INVOLEMENT SO MOST OF THE CASES OF G H S LIVE NORMALY AND HAVE NORMAL INTELIGENCE HOWEVER 15 PERECENT CASE HAVE CRANIFACIAL DYSPLASIA AND OCULOAURICULO VERTEBRAL DYSPLASIA BOTH THSES RARE MANIFESTATIONS ARE DUE TO INCOMPLETE DEVOLEMENT OF 1ST AND 2ND BRANCHAIL ARCH DUE TO DEFECT IN GENES NOT INHERETD THEY INVOLVE HEAD AND FACE EAR NOSE SOFT PLATE AND MANIDIBLE DEFECTS ARE ALSO SEEN IN KIDNEY SPINE LIMBS CONG HEART SQUINT UNDERLYING ORBIT DENTAL AND EAR DEFECTS AND IMPAIRMENT OF INTELIGENCE SO IN THIS GROUP ONE HAS TO DO FOLLOWING INVESTIGATIONS 1 ULTRASOUND ABDOMEN 2 XRAYS LIMBS AND SOINE 3 ECHOCARDIOGRAPHY 4 OPHTHALMIC EXMINATION M R I ORBITS DENTAL AND EAR EXAMINATION AND E E G