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Article

Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literature.

American journal of medical genetics. Part A - 1 Jan 2025

Brugnoli Chiara, Rizzi Susanna, Cesaroni Carlo Alberto, Spagnoli Carlotta, Pregnolato Giovanna, Caraffi Stefano Giuseppe, Napoli Manuela, Pascarella Rosario, Zuntini Roberta, Peluso Francesca, Garavelli Livia, Chiarotto Eleonora, Leon Alberta, Frattini Daniele, Fusco Carlo

Abstract excerpt

Hereditary congenital facial palsy (HCFP) is a medical condition caused by dysfunction of the seventh cranial nerve. HCFP is characterized by feeding difficulties and dysmorphic features in the orofacial region. In some cases hearing loss, strabismus, limb malformations, and musculoskeletal defects may be associated. There are three types of HCFP: HCFP3 (OMIM 614744) results from autosomal recessive pathogenic...

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PMID: 39235314
DOI: 10.1002/ajmg.a.63848

Genes

HOXB1

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