Article
Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations.
American journal of medical genetics. Part A - 1 Sept 2013
Kido Yasuhiro, Gordon Christopher T, Sakazume Satoru, Ben Bdira Eya, Dattani Mehul, Wilson Louise C, Lyonnet Stanislas, Murakami Nobuyuki, Cunningham Michael L, Amiel Jeanne, Nagai Toshiro
Abstract excerpt
Auriculocondylar syndrome (ACS) is a branchial arch syndrome typically inherited in an autosomal dominant fashion. Patients with ACS display the following core symptoms with varying severity: a specific malformation of the external ear, known as a "question mark ear," micrognathia and mandibular condyle hypoplasia. Recently, phospholipase C, β 4 (PLCB4) mutations were identified as the major cause of autosomal...
Topics
- Adult
- Ear
- Ear Diseases
- Female
- Genes, Recessive
- Humans
- Infant, Newborn
- Karyotype
- Male
- Mutation
- Pedigree