Article
Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Apr 2026
Petrin Aline L, Machado-Paula Ligiane Alves, Hinkle Austin, Hovey Luke, Awotoye Waheed, Chimenti Michael, Darbro Benjamin, Ribeiro-Bicudo Lucilene A, Dabdoub Shareef M, Peter Tabitha, Breheny Patrick, Murray Jeffrey C, Van Otterloo Eric, Rengasamy Venugopalan Shankar, Moreno-Uribe Lina M
Abstract excerpt
ObjectiveOculoauriculovertebral spectrum (OAVS) encompasses abnormalities on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular, and vertebral anomalies. We present genetic findings on a 3-generation family affected with macrostomia, preauricular tags and ptosis following an autosomal dominant pattern.DesignWe generated...
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