title: Congenital factor VII abnormality discovered in an infant at a routine checkup.
abstract: Congenital coagulation factor VII abnormality in an infant was first discovered because of a decreased normotest value at a routine health checkup at the age of 1 month. No bleeding tendency had been noticed. The normotest value did not respond to an administration of vitamin K. The prothrombin time (PT) was prolonged, and the activated partial thromboplastin time (A-PTT) was in the normal range. Factor VII activity was extremely low, whereas the level of factor VII antigen was relatively low. These data indicate that the propositus is a factor VII reduced variant, a rare variant of congenital factor VII deficiency. The propositus and her brother are homozygotes, and her parents and sister are heterozygotes.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
authors.forename: I
authors.initials: I
authors.lastname: Fujita
authors.forename: Y
authors.initials: Y
authors.lastname: Takahashi
authors.forename: T
authors.initials: T
authors.lastname: Sakaguchi
authors.forename: K
authors.initials: K
authors.lastname: Joh
authors.forename: K
authors.initials: K
authors.lastname: Ueda
authors.forename: O
authors.initials: O
authors.lastname: Takamiya
mesh_terms: D001780:Blood Coagulation Tests; D005168:Factor VII Deficiency / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant