just delivered 35 wks neonate present with apnea . active resuscitation done , weak respiration start but after minute another attack of apnea.in less than hour he passed away. O/E bilateral club foot ,dysmorphic face, micrognathia, undescended testis. Mother had Toxoplasmosis. another 2 siblings previously were died after delivery. your impressions?

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Dr abdulh here's syndrome is not important so many syndrome like TRISOMY 18, PIERRE ROBBIN , DUBOWITZ SYNDROME AND CHARGE SYNDROME IMPORTANT IS LOSS OF THREES CONSECUTIVELY CHILD IS THEY ALL DIED BECAUSE OF TORCH OR TOXOPLASMOSIS DIAGNOSIS OF SYNDROME AS DISCUSSED WILL NOT LEADS TO CONCLUSIONS I THINK CAUSE OF THIS CHILD DEATH MAY BE DUE TO ASSOCIATE CARDIAC ANOMALIES BECAUSE MOST OF THE Time THIS ASSOCIATION OCCURRED AS You TOLD RECURRING APNOEA WAS THERE WHAT WAS THE CAUSE ?? RESPIRATORY OR CARDIAC OR CEREBRAL??? NOW WE MUST TOLD PARENTS TO DO INVESTIGATE MOTHER AFTER PREGNANCY POSITIVE ADVISE CVS AND AMNIOCENTESIS AND APLA ALONG With TORCH AND KARYOTYPING BOTH MOTHER And FATHER IS NECESSARILY IMPORTANT

Dr abdulh if associate finding of tongue falls backwards may lead to respiratory compromise
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35 weeks P.T. Infant with Apnea. 2 Sibs death. Given Pictures show : Dysmorphic FACIES. Wide placed Eyes. Philtrum absent. Micronagthia. Low set EARS. Both Lips ECHYMOTIC. CLUB FOOT BILATERALLY. CONCLUSION : SYNDROMIC INFANT. FOR DEFINITIVE DIAGNOSIS POSTMORTEM IS THE ANSWER. POSTMORTEM GIVES THE CLUE FOR THE NEXT PREGNANCY IF AT ALL. LOOKS LIME MULTIPLE CONGENITAL DEFECTS CAUSED THE DEATH OF THE INFANT. WORK UP WITH : GENETIC TESTING OF BOTH THE PARENTS IS IMPORTANT IN SITUATIONS LIKE THIS. WHAT ABOUT ANTENATAL SCANS ??.

Previous sibling deaths make toxo an unlikely diagnosis, respiratory failure, dysmorphism and club feet make cerebral malformations likely. The dysmorphism which is apparent in these pics is absent philtrum. This can hsppen in pyruvate dehydrogenase complex deficiency which can also have apnea, but presentation at birth of a small molecular defect less likely.

Thank you sir for your explanation.however there is no typical features, but do you agree with Edward syndrome?
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3 sibling getting affected by aneuploidy rather uncommon a happening. Edwards typically has overlapping of fingers, prominent occiput. They will survive for a while.

dear,club foot may cure Undescended testis may desend Toxoplasmosis previously occur mild importance for this child. Micrognathia,dysmorphic face presently not impotonce. Fist do stablise baby for apnea. Then some investigation done urgent basis like xray chest,abdomen in erect view to rule out another malfunction like megacolan, kub for kideny status also for testis, baby kept in iccu under oberbation. Gess syndrome abnormality done karyotyping via umbilical blood.

Looks like treacher collins.....there is associated apneas with it....closely.mimics peirre robin sequence.....there is facial dysmorphism particularly retrognathia.....mutation analysis and counselling is needed

What about potter syndrome??
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Most of the points are agreeable. I think prenatal USG screening would have thrown some light on the expected outcome of the neonatal problems. The need of the hour is to do postmortum to establish the congenital defects and also to investigate the parents for future medical guidance for pregnancy with close monitoring right from the conception time.

This is syndromic baby, many dysmorphic features, mother having toxomoplasma infection in pregnancy. If you take lat skullxray of baby it will show diffuse calcificatiin in brain. Torch test was useful clue to manage the the medical problems. Any way this is not Potter faces to me.

Concentrate on the next pregnancy.... Run genetic screening.... Titres for infection....

Without a confirmed diagnosis in the index case it is well nigh impossible to run a battery of tests in future pregnancy or in the parents.
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first resucsitated and intubate put on c pap early immidiate chest Xray steroid given other supportive and mostly SURFACTANT If present give him

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