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Brushfield spots tend to be obscured by pigmentation of the anterior border layer of the iris in patients with darker irides. Hence, they are much more likely to be observed in children with lightly pigmented eyes. Brushfield spots are more commonly found in Down syndrome patients of European descent than similarly affected children of Asian ...
Down syndrome or Down's syndrome, [12] also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features.
According to the Centers for Disease Control, each year about 6,000 babies are born with Down syndrome, making it the most common chromosomal disorder. That's about 1 in every 700 newborns. That's ...
Clinically, if the point at which the helix (curved upper part) of the outer ear meets the cranium is at or below the line connecting the inner canthi of eyes (the bicanthal plane), the ears are considered low set. [2] [1] Low-set ears can be associated with conditions such as: Down syndrome [3] Turner syndrome; Noonan syndrome [4] Patau ...
Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism. In this condition the distance between the inner eye corners as well as the distance between the pupils is greater than normal.
For Ashley Zambelli, a surprise diagnosis allowed her to have an even more special bond with her children.. The Michigan-based mom, 23, recently found out she has Mosaic Down syndrome, a condition ...
When Courtney Baker's baby was diagnosed with Down syndrome her doctor advised her to get an abortion -- and now she's opening up about the experience.
Multiple dysmorphic features in a patient with Pitt–Rogers–Danks syndrome: microcephalia, micrognathia and protrusion of the eyeballs. A dysmorphic feature is an abnormal difference in body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, genetic syndrome or birth ...