18
Apr
Prenatal profile of Pallister-Killian Syndrome
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Determining a prenatal profile for Pallister-Killian Syndrome leads to earlier genetic counseling and symptom management. Pallister-Killian syndrome (PKS) is a genetic condition which results in a variety of symptoms, including facial dysmorphisms, skin discolorations, intellectual disability, developmental delay, congenital heart defects, congenital diaphragmatic hernia (abdominal hernias that occur in fetuses),... Read More
21
Jun
Meet one of CDO’s Founders and her daughter, Tylermarie
I am so glad CDO is still going strong. 28 years ago I too had a child with a chromosome disorder (7 Q-) and was thrown into a unfamiliar world. Myself & a handful of other moms in all different states started CDO. We had a newsletter and weekly conversations.... Read More
20
Jun
Phelan-McDermid Syndrome Patient Powered Research Network
This article discusses Phelan-McDermid Syndrome and the Patient Powered Research Network. Phelan-McDermid Syndrome (PMS) is a rare neurodevelopmental disorder, with only about 1,400 cases reported. It is caused either by a 22q13 deletion – a region within the long arm of chromosome 22 – or a mutation within the SHANK3... Read More
19
Jun
The Quest for a Diagnosis – Emily Wachter – 3q29 deletion
The quest for a diagnosis has been a recurrent theme in my daughter’s life. She is 21 now, legally an adult, but she will forever be a woman-child. I knew something was wrong with Emily when she was an infant. She was difficult to feed as an infant, never... Read More
