Goldenhar syndrome is characterized by which of the following?

Study for the AAPD-QE. Prepare with flashcards and multiple choice questions, each question is accompanied by hints and explanations. Get ready for your exam!

Goldenhar syndrome, also known as oculoauriculovertebral spectrum, is a congenital condition that primarily affects the development of the face and ears, often leading to a range of craniofacial differences. The hallmark characteristics of this syndrome include unilateral microtia (underdevelopment of the external ear), macrostomia (an unusually large mouth), and significant failure in the formation of mandibular structures, which can lead to facial asymmetry.

The correct choice encompasses this triad of features, highlighting the complexity of the syndrome's presentation. It is not uncommon for individuals with Goldenhar syndrome to exhibit these specific developmental anomalies, particularly the unilateral aspect of microtia and macrostomia, both of which are directly associated with the underlying embryological disruptions that occur during the formation of facial structures.

While other options touch on various aspects of related conditions or features that may be seen in other syndromes or kinds of ear-related issues, they do not fully capture the primary characteristics associated with Goldenhar syndrome as comprehensively as the correct choice. Understanding the specific associations and features of Goldenhar syndrome is crucial for accurate diagnosis and management, which is why the details regarding microtia, macrostomia, and mandibular formation are essential in identifying this condition.

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