In my clinic, a male baby aged 1.5 years presented with developmental delay. On physical examination, he mas found microcephalic, hypotonic, with facial dysmorphic features (squint and full cheeks)and severe developmental delay. Brain Ct revealed diffuse brain atrophy. Aminogram was done for him and high phenylalanine level (20 mg/ml). Aminogram was repeated again and gave the same result. Aminoacids profile was asked for his mother and surprisingly she was not found heterozygous for PKu. What's your opinion?     Check out the answer

I want to know what's the pathogenesis and clinical presentation of lesch nyhan syndrome thank you     Check out the answer

Respected Sir i want to have your opinion on this case. he is a seven month old male child. born to a gravida 2 mother. first pregnancy terminted due to anencephaly. antenatal USG normal during this pregnancy. FTND LBW birth weight 2.0kg, length 38 cm, head circumference 32cm. (had E/o intrauterine dwarfism no neonalal problem he has noe following features primordial dwarfism length 50cm weight 5kg < 3 percentile head O 42cm . upper segment to lower segment=2.33 head relatively large than body. short chest, no upper limb shortening clinodactyly, single palmer crease, but no trident hand. normal intelligence, but gross motor milestons delayed. x-ray long bones and spine normal. cranial USG normal. thyroid profile normal. chromosomal study is normal the above features are s/o acondroplasia,or hypochondroplsia. but there is no e/o trident hand. or any features on x-ray. please guide me further.     Check out the answer

Why Familial fatal Insomnia,Gerstman Straussler sheinker syndrome ,dementia patients should not donate blood?     Check out the answer

A newborn with dysmorphic features as follows: High-arched palate Arthrogryphosis Small everted Ears Thick skin folds over the back of neck and axillary folds Rocker bottom foot Hyperextensiblity at wrist joint     Check out the answer

To, A Geneticist. We have a 10 year old boy with the foolowing features, we could not fit him into a syndrome. Pleased help. Features : Macrocephaly Dolicocephaly Hypertelorism Microcornea, Brawny skin, Short stubby fingers and toes, Short stature, Skeletal delay, Thyroid profile - normal, Mental retardation, Bronchiectasis - b/l Allergic bronchopulmonary aspergillosis     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.
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What's BAART syndrome     Check out the answer