title: A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects.
abstract: Pediatric emergency visits with purpura fulminans should raise the suspicion of hereditary homozygous protein C deficiency even beyond the neonatal age. The absence of this classical finding does not role the diagnosis out as atypical presentation with isolated intraocular bleeding was observed. Premarital counseling should be offered when family history suggests.
authors.affiliation: Pediatric Hematology Unit King Abdulaziz Medical City National Guard Health Affairs-Western Region Jeddah Saudi Arabia; College of Medicine King Saud bin Abdulaziz University for Health Sciences Jeddah Saudi Arabia.
authors.forename: Abdullah A
authors.initials: AA
authors.lastname: Baothman
authors.affiliation: College of Medicine King Saud bin Abdulaziz University for Health Sciences Jeddah Saudi Arabia; Hematology Department King Abdulaziz Medical City National Guard Health Affairs-Western Region Jeddah Saudi Arabia; Pathology Department King Abdulaziz Medical City National Guard Health Affairs-Western Region Jeddah Saudi Arabia.
authors.forename: Enaam
authors.initials: E
authors.lastname: AlSobhi
authors.affiliation: College of Medicine King Saud bin Abdulaziz University for Health Sciences Jeddah Saudi Arabia.
authors.forename: Hassan A
authors.initials: HA
authors.lastname: Khayat
authors.affiliation: College of Medicine King Saud bin Abdulaziz University for Health Sciences Jeddah Saudi Arabia.
authors.forename: Raed E
authors.initials: RE
authors.lastname: Alsulami
authors.affiliation: College of Medicine King Saud bin Abdulaziz University for Health Sciences Jeddah Saudi Arabia.
authors.forename: Abdulaziz S
authors.initials: AS
authors.lastname: Alkahtani
authors.affiliation: Pathology Department King Abdulaziz Medical City National Guard Health Affairs-Western Region Jeddah Saudi Arabia.
authors.forename: Abdelraheem A
authors.initials: AA
authors.lastname: Al-Thobyani
authors.affiliation: College of Medicine King Saud bin Abdulaziz University for Health Sciences Jeddah Saudi Arabia.
authors.forename: Yousef I
authors.initials: YI
authors.lastname: Marzouk
authors.affiliation: College of Medicine King Saud bin Abdulaziz University for Health Sciences Jeddah Saudi Arabia; Hematology Department King Abdulaziz Medical City National Guard Health Affairs-Western Region Jeddah Saudi Arabia; Pathology Department King Abdulaziz Medical City National Guard Health Affairs-Western Region Jeddah Saudi Arabia.
authors.forename: Mohammad A
authors.initials: MA
authors.lastname: Abdelaal
keywords: Deficiency; genotype; homozygous; presentation; protein C; purpura fulminans