We present a case report of a newborn girl that was admitted at the University Childrens Hospital Brasov Romania, for dehydration and cyanosis. She also presented with the characteristic features of Down syndrome associated to symptomes of Di George syndrome. She presented with persistent hypocalcemia...
A support group for parents to be or current parents of children diagnosed with Down syndrome (Trisomy 21). You don't have to walk the journey alone.
Well-defined, distinctive phenotypic features and natural history characterize Down syndrome, the most frequent form of developmental disability caused by a microscopically demonstrable chromosomal aberration. Triplicate state or trisomy of all or a portion of chromosome 21 causes Down syndrome. There are ...
Receiving the diagnosis made me feel as though I had been kicked down into a dark hole. A dark hole of ignorance and fear, not knowing what “Down syndrome” was or what it meant for my newborn baby girl. That’s where my wife and I lived for the first three days of our daughter...
Males with Down syndrome have been reported with cryptorchidism and hypospadias but not with frankly feminine external genitalia. We report such a patient. The 3020 g. white infant was the product of a full-term pregnancy in a 33-year-old gravida 2 para 1 mother and was noted to have ...
That, it would prevent a mother from aborting her fetus for being a girl? And, how the negative effect of the law would be that more women are born? Of course not. But, not so with Down syndrome. This guy thought nothing of making “Down syndrome” the means...
Down Syndrome Diagnosis After a baby is born, a doctor may suspect Down syndrome in a newborn based on the baby’s appearance. But some babies without DS may have similar physical features to a baby with Down syndrome. A diagnosis can be confirmed by a blood test called a karyotype test...
(It wasn't appropriate to discuss the life expectancy of my newborn, and also the figure is into the 60s these days with many people with Down's syndrome living into their 70s with the right care and support. And the comment that still stings from a pregnant acquaintance who proudly annou...
Down syndromeNeonatal hemochromatosisacute liver failureautopsyBackground: Neonatal hemochromatosis (NH) is a cause of neonatal/pediatric acute liver failure. Liver dysfunction/failure in Down syndrome had been described in relation to increased susceptibility to infection and transient myeloproliferative ...
Why Down Syndrome? Before Jaxson came into our life we were always very open with not only our plan to adopt, but our plan to adopt a child with Down Syndrome. The most common reaction was “Why would you do that” (with the exasperated, gasping undertone), followed by “oh my god ...