Familial vitamin K metabolism deficiency responsible for a congenital binder phenotype.

A 4-month-old male born with a Binder Phenotype was admitted for the evacuation of a large subdural hematoma. The blood analysis revealed a prolonged prothrombin time due to vitamin K-dependent coagulation factor deficiency. Vitamin K participates in the embryonic development of the nasal cartilage. The genetic analysis of our patient revealed a rare genetic cause, responsible for the congenital Binder phenotype associated with a defect in the vitamin K metabolism, a pathogenic variant in the GGCX gene that has not been previously reported in the literature. All neonates presenting a Binder Phenotype would benefit from coagulation screening, an easy-access exam, in order to prevent severe and potentially dreadful hemorrhagic events.