Fanconi's anaemia and cerebrovascular anomaly. 2011

M P Mahato, and D B Sharma, and Rashmi Shukla
Department of Paediatrics, ASCOMS and Hospital, Jammu, India. dr_mathuraprasad@yahoo.com

Fanconi's anaemia (FA) is a paradigm of congenital anomalies including almost all systems. But FA with cerebrovascular anomalies is rare. The authors report a case of FA with hypoplasia of the posterior cerebral circulation including the basilar artery, bilateral vertebral arteries, posterior cerebral and posterior communicating arteries. The diagnosis of FA was established on the basis of induced chromosomal breakage study with mitomycin C.

UI MeSH Term Description Entries
D008297 Male Males
D002536 Cerebral Arteries The arterial blood vessels supplying the CEREBRUM. Arteries, Cerebral,Artery, Cerebral,Cerebral Artery
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D005199 Fanconi Anemia Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id Anemia, Fanconi,Fanconi Hypoplastic Anemia,Fanconi Pancytopenia,Fanconi Panmyelopathy,Fanconi's Anemia,Anemia, Fanconi's,Anemias, Fanconi,Fanconi Anemias
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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