title: Neonatal manifestations of inherited bone marrow failure syndromes.
abstract: The inherited bone marrow failure syndromes (IBMFS) are a rare yet clinically important cause of neonatal hematological and non-hematological manifestations. Many of these syndromes, such as Fanconi anemia, dyskeratosis congenita and Diamond-Blackfan anemia, confer risks of multiple medical complications later in life, including an increased risk of cancer. Some IBMFS may present with cytopenias in the neonatal period whereas others may present only with congenital physical abnormalities and progress to pancytopenia later in life. A thorough family history and detailed physical examination are integral to the work-up of any neonate in whom there is a high index of suspicion for an IBMFS. Correct detection and diagnosis of these disorders is important for appropriate long-term medical surveillance and counseling not only for the patient but also for appropriate genetic counselling of their families regarding recurrence risks in future children and generations.
authors.affiliation: Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Payal P
authors.initials: PP
authors.lastname: Khincha
authors.affiliation: Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: savagesh@mail.nih.gov.
authors.forename: Sharon A
authors.initials: SA
authors.lastname: Savage
mesh_terms: D000741:Anemia, Aplastic; D029503:Anemia, Diamond-Blackfan / Q000150:complications / Q000175:diagnosis / Q000628:therapy; D001855:Bone Marrow Diseases / Q000150:complications / Q000175:diagnosis / Q000628:therapy; D000080983:Bone Marrow Failure Disorders; D000080984:Congenital Bone Marrow Failure Syndromes; D019871:Dyskeratosis Congenita / Q000150:complications / Q000175:diagnosis / Q000628:therapy; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications / Q000175:diagnosis / Q000628:therapy; D005199:Fanconi Anemia / Q000150:complications / Q000175:diagnosis / Q000628:therapy; D006457:Hemoglobinuria, Paroxysmal / Q000150:complications / Q000151:congenital / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D008068:Lipomatosis / Q000150:complications / Q000175:diagnosis / Q000628:therapy; D009503:Neutropenia / Q000150:complications / Q000151:congenital / Q000175:diagnosis / Q000628:therapy; D011884:Radius; D000081003:Shwachman-Diamond Syndrome; D013921:Thrombocytopenia / Q000150:complications / Q000175:diagnosis / Q000628:therapy; D038062:Upper Extremity Deformities, Congenital / Q000150:complications / Q000175:diagnosis / Q000628:therapy
keywords: Bone marrow failure; Cancer; Cytopenia; Dyskeratosis congenita; Fanconi anemia; Neonate