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Question Category:Genetic disorders

What is the causese of arnold chiari malformation and what is the prognosis??     Check out the answer

Question Category:Genetic disorders

i want information about cystinosis     Check out the answer

Question Category:Genetic disorders

I have a son 7 months old. he has a single palmar crease,simian crease. i could noy find any other anamoly. his milestones are normal till date.how should i follw him and what investugations are required.     Check out the answer

Question Category:Genetic disorders

I have come across two cases, one, a neonate and another an infant, with cervical and cervico-dorsal anomalies. The infant has torticollis and the neonate has associated cleft lip. Do these vertebral anomalies need any further evaluation and treatment?     Check out the answer

Question Category:Genetic disorders

Dear sir, Closely related couple have genetic problem.They have 4 children two male alive &two female died soon after delivery with polyhydraminous.His grandfather had the same story,alot of males but non of the females survived.What are the possible diseases?
    Check out the answer

Question Category:Genetic disorders

Dear sir The product of consanguinous marriage is 6 children.1st&2nd are both male died between 2y-3y sharing similar picture.Both born normally thriving satisfactorily till beyond 1st year when they start to show physical& mental retardation ended with crippled spastic state.The 3rd is twin female is surviving with sever deaf-mutism.The 4th pregnancy is female with deaf-mutism.The 5th is male & normal.What is the most likely inhereted disease they have?     Check out the answer

Question Category:Genetic disorders

If there is any difference in clinical presentation of a down syndrome child if it's due to nondysjunctional or translocation type?     Check out the answer

Question Category:Genetic disorders

Respected Sir, .My baby is having bilateral cataract with DOWN SYNDROME with CYNOTIC HEART DISEASE(complete av canal defect severeps=is+vsd+asd+hypoplasticpulmonayannulus).It is a difficult decision for me whether I should I go for cardiac surgery or not.Her heart will require atleast two open heart operations which will require big money as well as great risk&even after operation her life will be not of good quality There are many down syndrome complication & cataract complication. I consulted rehablitation school for down baby there adviced is as under--"" Even if the child survives, it will remain custodial for life, adding unsurmountable financial, emotional, social and logistic burden to the parents with no hope of its ending till the child departs. This surgery will do little to add to the quality of life of the child. &Impartially speaking, you do not have any quality of life to offe your child even after such herculean efforts since the child's brain cannot be revived, without which there is no quality of life. The life risk of such intricate suirgeries is also exhorbitant. She is 8 weeks old now.And what is your advice considering all aspect of disease.This is a difficult decision.your guidance will help me .What should I do?IF I DECIDE TO GO FOR ALL OPERATIONS IT WILL CONSUME ALL MY MONEY & I WILL GIVE HER A DEPENDENT DISEASED LIFE.IF I DECIDE NOT TO GO FOR SURGERY I WILL REMAIN GUILTY CONCIOUS ALL MY LIFE sundeep nigam     Check out the answer
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