What is a common feature of Pallister Killian Syndrome?

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Pallister Killian Syndrome is primarily characterized by the presence of a specific chromosomal abnormality, leading to a range of developmental and physical features. One of the common features associated with this syndrome is congenital diaphragmatic hernia. This condition involves an abnormality in the diaphragm muscle, which may lead to complications such as respiratory distress in affected individuals.

The congenital diaphragmatic hernia is a significant finding because it reflects the associated structural anomalies that can occur due to the genetic changes linked with Pallister Killian Syndrome. Affected individuals are often monitored for potential respiratory issues arising from this condition in early life.

Other options, while related to different genetic syndromes or disorders, do not specifically define Pallister Killian Syndrome. Neuropathy is not a common characteristic of this syndrome, nor are hypertelorism or coloboma, which are more typically associated with other chromosomal or developmental disorders. The presence of congenital diaphragmatic hernia in Pallister Killian Syndrome helps clinicians anticipate and manage the potential complications that may arise, making it a key feature of the syndrome.

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