1. Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related condition.
- Author
-
Brischoux-Boucher E, Dahlen E, Gronier C, Nobili F, Marcoux E, Alkuraya FS, and Van Maldergem L
- Subjects
- Abnormalities, Multiple physiopathology, Coloboma genetics, Coloboma physiopathology, Egypt epidemiology, Humans, Hypertelorism physiopathology, Male, Musculoskeletal Abnormalities genetics, Musculoskeletal Abnormalities physiopathology, Nose physiopathology, Nose Diseases physiopathology, Pakistan epidemiology, Phenotype, Respiratory System Abnormalities, Turkey epidemiology, Abnormalities, Multiple genetics, Hypertelorism genetics, Nose abnormalities, Nose Diseases genetics, Receptors, Interleukin genetics
- Abstract
BNAR syndrome (MIM608980) is a very rare condition: nine cases belonging to three unrelated families were reported since its first description in 2002. The distinctive clinical feature is the bifidity of the tip of the nose and its association with anorectal and/or renal anomalies. Its molecular basis consisting of biallelic FREM1 missense or nonsense mutations was elucidated after studying the original Egyptian family and was confirmed in two families originating from Afghanistan and Pakistan. We describe a fourth family originating from Turkey with signs challenging the diagnostic criteria suggested by the description of the three reported families., (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2020
- Full Text
- View/download PDF