title: Congenital amegakaryocytic thrombocytopenia with multiple physical anomalies in a female neonate.
abstract: Congenital Amegakaryocytic Thrombocytopenia (CAMT) is a rare disorder of infancy characterized by isolated thrombocytopenia along with hypoplasia or aplasia of megakaryocytes in the bone marrow. It is caused by c-mpl mutation which disrupts the function of thrombopoietin (TPO) receptor. CAMT in association with physical anomalies is a rare entity with only limited data from single case reports being available. Here we present a case of 35 days neonate who had CAMT together with facial malformations and cardiac defects.
authors.affiliation: Department of Hematology and Transfusion Medicine, The Children's Hospital and The Institute of Child Health, Lahore.
authors.forename: Nazish
authors.initials: N
authors.lastname: Saqlain
authors.affiliation: Department of Hematology and Transfusion Medicine, The Children's Hospital and The Institute of Child Health, Lahore.
authors.forename: Nisar
authors.initials: N
authors.lastname: Ahmed
authors.affiliation: Department of Hematology and Transfusion Medicine, The Children's Hospital and The Institute of Child Health, Lahore.
authors.forename: Unaiza
authors.initials: U
authors.lastname: Qamar
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000080984:Congenital Bone Marrow Failure Syndromes; D004452:Echocardiography; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008533:Megakaryocytes; D009154:Mutation; D053628:Receptors, Thrombopoietin / Q000235:genetics; D013921:Thrombocytopenia / Q000175:diagnosis* / Q000235:genetics
chemical_list: D053628:Receptors, Thrombopoietin