Fanconi's anemia. I. Case histories, clinical and laboratory findings in six affected siblings.
This is a study of the largest family with Fanconi's anemia known in the world literature, namely of 6 affected siblings. All patients showed the typical features of the disease, including pancytopenia, skeletal and kidney deformities, hyperpigmentation of the skin, and physical as well as mental retardation. Four of the patients have died of their disease, the 2 patients who are still living at present have a deteriorating clinical course. Case histories, clinical and laboratory findings are reported here. In the second and third part of this study [48, 52] endocrinologic and genetic findings will be reported.
D000015:Abnormalities, Multiple; D000293:Adolescent; D000741:Anemia, Aplastic / Q000235:genetics*; D001724:Birth Weight; D001772:Blood Cell Count; D001824:Body Constitution; D001848:Bone Diseases, Developmental; D002648:Child; D002675:Child, Preschool; D004423:Ear / Q000002:abnormalities; D004912:Erythrocytes / Q000201:enzymology; D005199:Fanconi Anemia / Q000097:blood / Q000235:genetics*; D005260:Female; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability; D008213:Lymphocyte Activation; D008297:Male; D008850:Microphthalmos; D010375:Pedigree; D010859:Pigmentation Disorders; D014564:Urogenital Abnormalities
D006454:Hemoglobins