Severe thrombocytopenia and intracranial hemorrhage in a newborn with Noonan syndrome and neonatal alloimmune thrombocytopenia

Autor:	Rebecca Carter, Anna-Kaisa Niemi
Rok vydání:	2021
Předmět:	Thrombocytopenia Neonatal Alloimmune Heterozygote Noonan Syndrome Infant Newborn Humans Anemia Antigens Human Platelet Hematology General Medicine Intracranial Hemorrhages
Zdroj:	Platelets. 33:649-651
ISSN:	1369-1635 0953-7104
DOI:	10.1080/09537104.2021.1981845
Popis:	Noonan syndrome (NS) is a genetic disorder with distinctive physical features and often multiple organ involvement. Bleeding disorders are reported in over half of patients with NS, including thrombocytopenia and platelet dysfunction. Neonatal alloimmune thrombocytopenia (NAIT) is an alloantigenic thrombocytopenia that can present with severe bleeding. Here, we present a case of intracranial hemorrhage and severe thrombocytopenia in a neonate found to have both NAIT and a de novo heterozygous pathogenic variant in
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::818f024266781610f7b4404573a2ea5c https://doi.org/10.1080/09537104.2021.1981845 Zobrazit plný text záznamu