SIR I Want to know about wolmans disease     Check out the answer

what is the disease where the following signs are seen: *brownish discoloration of the sclera *brownish discoloration of the ear lobe *brownish discoloration of the urine? All these signs and symptoms are together in a certain disease...could someone be kind enough to let me know?     Check out the answer

here is a 17 yr. old male child complaint of the inability to flex his fingres and short stature and delayed puberty and broadening of the wrist and small jt paincns examination is normal what is the possible diagnosis     Check out the answer

A 4 month old infant weighing 8kg having severe hypertension,blindness(cortical),gross developmental delay(global).Fundus no pailedema but elliptical in shape.S. cortisol slightly raised (both morning and evening levels).Can Cushings syndrome present with these additional features or is it another syndrome?     Check out the answer

why there is macrocephaly at birth and early neonat=al period in a case of glutaric acidemia type 1
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What is the sister disease to turner syndrome?     Check out the answer

Dear Doctor, I am father of a son who is eight months old & is diagnosed to have downs syndrome(Trisomy 21).He has just started to sit with support.When we compare our child with other children myself & my wife loose patience. Can we know by testing IQ whether our son has serious disorder or we have to wait. Regards Anil Suryavanshi     Check out the answer

Ehlar Donalds syndrome i want more information about it we have to wait. Regards Anil Suryavanshi     Check out the answer

A newborn with severe hypotonia and abnormal facies which included high forehead, supraorbital ridge not prominent, retrognathia, high arched palate. she had lax skin in the neck, mild euinovarus defect. Incidental USG brain findings was colpocephaly which was confirmed by CT scan head which showed communicating hydrocephalus. As the child is not able to maintain its oxygen saturatuin beyond 88% without oxygen a possibility of cyanotic CHD was kept but @d echo revealed acynotic CHD with ASD & PDA with LVEF = 72%. what syndrome the child fits into? DTRs are absnt but there are no tongue fasciculations.Child is on gavage feeds as is not able to swallow bcoz of retrognathia, dullness & severe hypotonia.     Check out the answer

what is the incidence of trecheoesophageal fistula in the down syndrome baby?     Check out the answer

Opitz syndrome williams syndrome smith-lemli-opitz syndrome i want information about these genatics disorder what the clinical feature???     Check out the answer

what the genetic cause of arnold chiari? what is the genetic concept????     Check out the answer

what is different between potter type 1 and 2     Check out the answer

What is meant by codominant and partial dominant inheritance in both autosomal and xlinked cases.     Check out the answer

Hello i want to ask about d.d. of ectodermal dysplasia ,diagnosis and treatment with much thanks
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