Certified Pediatric Hematology Oncology Nurse (CPHON) Practice Exam 2025 - Free CPHON Practice Questions and Study Guide

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Which clinical feature is associated with Dyskeratosis Congenita?

Nail dystrophy

Dyskeratosis congenita is characterized by a triad of clinical features, and one of the hallmark signs is nail dystrophy. Individuals with this condition often present with abnormal nail growth, which can include changes in shape, texture, and color. Nail dystrophy not only serves as a visible marker for the disorder but also reflects the underlying genetic issues that affect epithelial cells, leading to impaired keratinization.

In the context of the other options, while short stature can be a feature in some patients with dyskeratosis congenita, it is not as definitive or specific to the condition as nail dystrophy. Hip dysplasia and epicanthic folds are generally not associated with dyskeratosis congenita. Therefore, identifying nail dystrophy as the clinical feature related to dyskeratosis congenita underscores the condition's distinct manifestations and assists in diagnosis and genetic counseling for affected individuals.

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Short stature

Hip dysplasia

Epicanthic folds

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