Genetic disorders - Pediatric Oncall

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Genetic disorders

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Gurmeet Singh, Reena Sood Department of Pediatrics and Department of Obstetrics and Gynaecology, Sh...

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Question Category : Genetic disorders
Hello , my wife is 7 weeks pregnant now , we are expecting our newborn %50 will have congenital cataract due to galactokinase deficiency or even galactose 1 phosphate uridil transferase deficiency ( as my wife and all her sisters born with the same congenital disease ), i got all these information as iam medical student and now comes the important question , is there any way we can avoid having babe with congenital cataract ?? if there is any pediatrician that can help with advice will be great ? should i ask my wife not to ingest any milk or milk product as she is doing this now regularly as a good source of calcium ? we will visit the obst. at the 9th of may , should i ask him to refer me to biomedical specialist ? iam very concerned about this because this will be my son or my daughter and i am looking for better life for him or her , so please if there is any specialist that can help with advice or with referring me to someone that can help that will be great favor to do , we live in southern california in san diego area . Check Out the Answer
Question Category : Genetic disorders
Dear sir I am 38 years old my wife is 34 years old.We married five years back.My wife conceived 2 years after marriage but she had 13 weeks abortion.Second pregnancy is a DOWN SYNDROME baby(Two years old).Now we are planning for next BABY.We want to know whether we should go our (mine and my wife's)KARYOTYPING or we should go for pregnancy and go for aminocentesis of foetus and other investigations of foetus to rule out genetic abnormality. Check Out the Answer
Question Category : Genetic disorders
Dear sir, i have a neonate with suspected down's[karyotyping report awaited],with poor feeding.Is there some special method to feed the neonate?kindly ans. & oblige. Check Out the Answer
Question Category : Genetic disorders
A recently diagnosed case of duchenes muscular dystrophy has come with an accidental xray finding of an osteolytlic lesion type shadow in right humerus bone.can there be any possible association to the disease or is it merely coincidendal? Check Out the Answer
Question Category : Genetic disorders
why in down sydrome have semin cisisis (single cresis) Check Out the Answer
Question Category : Genetic disorders
Chromosomal analysis report of my daughter having down syndrome is -(Banding technique) Band level 550 no of meter phase 10--Trisomy-21.I want to know does parents require chrosomal analysis.What is the role of chrosomal analysis of parents.My wife age 34 years had missed abortion of her first pregnancy.Second baby is having Down Syndrome.Should we go next pregnancy or Our chromosomal analysis is required Check Out the Answer
Question Category : Genetic disorders
A 6yrs old boy,second child of a non consangous marriage,(has an 9yrs old brother,normal)presented with weakness,repeated falls while walking, lumber lordosis, wadling gait and positive Gower sign for last four months.Also there is history of ?mild/moderate birth asphyxia and delayed motor mile stones.(now the in telligence is normal)On examination there is no sensory involvement. Child has a characterstic marfanoid facies(dolicephaly,high arched palate, thin long extremities etc).Mother also tells about repeated chest infections during infancy and childhood.CPK=8625I.U./dl, muscle biopsy:fraying of muscle fibres,internalisation of nuclei and variation in size of muscle fibres.No family history of similar illness . PL help in making an definative diagnosis. Check Out the Answer
Question Category : Genetic disorders
Gaucher disease whats new treatment? Any information how to diagnosis articls about gaucher Check Out the Answer
Question Category : Genetic disorders
Wt is the management of DMD Check Out the Answer
Question Category : Genetic disorders
Neonate with absent eyebrows,low set ears,micropenis & beaked nose with no other significant findings-does it fit into any syndrome? Check Out the Answer
Question Category : Genetic disorders
2 years old male guy having Acromesomelic Dysplasia unable to stretch his limbs fully what is the suggestion Check Out the Answer

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