Article
Situs Inversus in an Infant With Hypomandibular Faciocranial Syndrome: Clinical Overlap With the Agnathia-Otocephaly Complex.
American journal of medical genetics. Part A - 1 Jul 2025
Corona-Rivera Jorge Román, Cortés-Pastrana Rocio Carolina, Navia-Espinoza Natalia, Claro-Marín Alexandra María, Martínez-Torres Ana Fátima, Peña-Padilla Christian, Bobadilla-Morales Lucina, Corona-Rivera Alfredo, Ryu Seung Woo, Seo Go Hun
Abstract excerpt
There have been three previously reported cases of hypomandibular faciocranial syndrome (HFS), which is characterized by dysgnathia (an absent or hypoplastic mandible), a protruding lower face, microstomia, normally positioned ears, and craniosynostosis. The dysgnathia and oro-pharyngo-laryngeal abnormalities in HFS are virtually identical to those found in the agnathia-otocephaly complex (AOC), of which severe...
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