RESUMO
Factor V congenital deficiency is a rare coagulation disorder initially described by Owren in 1947 and known as para hemophilia. It is transmitted through autosomal-recessive inheritance and homozygous cases are usually symptomatic. Factor V is an essential cofactor in the conversion of prothrombin to thrombin by activated factor X. In the absence of factor V, thrombin generation is slowed down and fibrin formation is delayed. This results in a bleeding tendency. We report a case of factor V congenital deficiency in an infant with recurrent epistaxis.
Assuntos
Epistaxe/etiologia , Deficiência do Fator V/diagnóstico , Deficiência do Fator V/congênito , Humanos , Lactente , Masculino , RecidivaAssuntos
Maus-Tratos Infantis , Diagnóstico Tardio , Insensibilidade Congênita à Dor/complicações , Ferimentos e Lesões/diagnóstico , Adolescente , Traumatismos dos Dedos/diagnóstico , Traumatismos dos Dedos/etiologia , Dedos/diagnóstico por imagem , Dedos/patologia , Humanos , Deficiência Intelectual/complicações , Masculino , Insensibilidade Congênita à Dor/diagnóstico , Radiografia , Automutilação/complicações , Automutilação/diagnóstico , Dedos do Pé/diagnóstico por imagem , Dedos do Pé/lesões , Dedos do Pé/patologia , Ferimentos e Lesões/patologiaRESUMO
Hypoglossia is a rare congenital anomaly and is frequently associated with limb anomalies. In 1971, Hall employed the term hypoglossia-hypodactylia syndrome for the classification of these oromandibular-limb hypogenesis syndromes. The syndrome is characterized by hypoglossia, micrognathia mandible and variable degrees of limb abnormalities, frequent gingival abnormalities, and an absence of mandibular incisors. We describe an unusual case of hypoglossia-hypodactylia syndrome. The newborn had hypoglossia, limb defects and complex congenital cardiopathy, which has to date never been reported to be associated to this syndrome.