A New Case of Ambras Syndrome Associated with a Paracentric Inversion (8) (q12; q22)

This document reported a new case of Ambras syndrome (AS), a rare form of congenital hypertrichosis, in a newborn girl with a paracentric inversion on chromosome 8 (q12; q22). This was the tenth documented case of AS and the second associated with a chromosome 8 inversion, but the first to evaluate peripheral androgens, which were found to be normal. The girl exhibited abundant dark hair on her face, ears, shoulders, and arms, with fine, lightly pigmented hair elsewhere, along with dysmorphic facial features. The study highlighted that the chromosomal inversion was not linked to changes in androgen plasma levels, suggesting that the genetic cause of AS remained unknown.