Goldenhar Syndrome: Morphological appearance

 1. Clinical Image

A 14-day-old newborn, born after a monitored pregnancy carried out until 39 weeks of gestation, presents with facial dysmorphia (Figure 1) characterized by right hemifacial hypoplasia and pre-au ricular diverticula. Orbital-cerebral imaging revealed left-sided fa cial asymmetry, hypoplasia of the malar bone, cheek soft tissues, nasal fossae, and agenesis of the corpus callosum. Additionally, general assessment did not reveal any cardiac, vertebral, or renal malformations. The diagnosis of Goldenhar Syndrome was con f irmed through molecular biology.

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