Which condition is indicated by the presence of a webbed neck and short stature in females?

Study for the Kaplan Pediatrics Test. Prepare with flashcards and multiple choice questions, each question features hints and explanations. Ace your exam!

The presence of a webbed neck and short stature in females is characteristic of Turner syndrome. This condition results from a complete or partial absence of one of the two X chromosomes. The webbed neck arises from the lymphatic system's failure to properly drain fluid during fetal development, leading to the characteristic appearance. Additionally, short stature is a common feature of Turner syndrome due to the lack of growth-promoting hormones produced in normal functioning ovaries.

Turner syndrome is exclusively seen in females and is associated with other features such as cardiovascular anomalies, renal malformations, and gonadal dysgenesis, which can lead to infertility. Early diagnosis and management can significantly improve the quality of life, particularly through growth hormone therapy to address short stature.

Other conditions listed do not typically present with these specific features. For example, Down syndrome presents with distinct facial features and varying levels of intellectual disability, Marfan syndrome is characterized by tall stature and cardiovascular issues, and Klinefelter syndrome primarily affects males, involving one or more additional X chromosomes leading to testicular dysgenesis, not a webbed neck or shortened stature as primary indicators.

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