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Question Category:Genetic disorders

How sinificantly can retrognathia cause obstructive apnoea with cyanosis; or any other additional risk factors shoule be there?     Check out the answer

Question Category:Genetic disorders

Neonate with gross hypotonia, cutis laxa, communicating hydrocephalus, acynotic CHD - pda & asd, abnormal facies such as high forehead, impalpable supraorbital ridge with feedind difficulty.     Check out the answer

Question Category:Genetic disorders

Respected Sir/ Madam, this is regarding a five month old female baby born of a non non-consanguineous mariage. the baby has severe dystonia since birth, devoplmental delay. sheisinvestigated and her CSF 5NTHF levels are low . sheis diagnosed as having ?cerebral folate deficiency and started on Leucovorin recently. will you please guide me to know the outcome of these type of cases. very few cases have been mentioned in the literature. with regards dr sangeeta     Check out the answer

Question Category:Genetic disorders

Is there any assosiation between Gram negative bacteria and glactosemia???/ why in rearly live not give hony to kids?????     Check out the answer

Question Category:Genetic disorders

I have an Autisitc Child, 7 yrs old, whose mother is 6 weeks pregnant, with a H/O 2nd degree consangious marriage & high maternal age (33). What are the chances of this pregnancy of having an autistic child ? Are there any relevant prenatal tests to be done at this stage ( 6 wks )?     Check out the answer

Question Category:Genetic disorders

What is mellard gabellar syndrome?     Check out the answer

Question Category:Genetic disorders

Whats the corelation between the turner syndrome and noonan syndrome?
    Check out the answer

Question Category:Genetic disorders

3 yrs old female with multiple significant cafe au lait spots. totally asymptomatic neurologically. parents worried. what should i advice??     Check out the answer

Question Category:Genetic disorders

I contacted you some time ago about a child that was born with a condition but the doctors didn't no what. You contacted me back with your thoughts that the child could have Achondroplasia as you and i both thought it turned out to be this condition. I was wondering what happens now do the parents have to have some kind of genetic blood testing so they no who carries this particular gene as i no that it can occur in parents who have no history of this. The problem is there has been some question from the begining from the father weather he is actually the true biological father but has expressed this to me in confidence and feels bad for doing so now that the child turns out to have this condition. From genetic blood testing is it possible to find out if he is the true biological father. Iam glad for your help so far and would love you to help me anyway you can for any information you can give me. Thanks.?     Check out the answer

Question Category:Genetic disorders

What are the case of x - linked disorder appaer in female?     Check out the answer

Question Category:Genetic disorders

A 7 month old femal with rocker bottom edematous feet, and saw like gum both upper and lwer. gums extra digit in right hand, .no cleft palat no webbed neck no widely spacced nipples     Check out the answer
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