title: Dominantly transmitted hematologic dysfunction clinically similar to Fanconi's anemia.
abstract: We report a family with a dominantly transmitted syndrome resembling Fanconi's anemia and spanning two generations. This syndrome was characterized by an ill-defined hematologic stem cell disorder, immune dysfunction, poor dentition, hyperpigmented skin, warts, and multiple second trimester spontaneous abortions and included one case of acute myelomonocytic leukemia (acute non-lymphocytic leukemia, M4). This family lacks the characteristic chromosomal aberrations of Fanconi's anemia. We believe this constellation of findings represents an entity not previously described.
authors.affiliation: Division of Hematology and Oncology, George Washington University Medical School, Washington, D.C.
authors.forename: C L
authors.initials: CL
authors.lastname: Alter
authors.forename: P H
authors.initials: PH
authors.lastname: Levine
authors.forename: J
authors.initials: J
authors.lastname: Bennett
authors.forename: C
authors.initials: C
authors.lastname: Kessler
authors.forename: M
authors.initials: M
authors.lastname: Rick
authors.forename: R G
authors.initials: RG
authors.lastname: Washburn
authors.forename: J I
authors.initials: JI
authors.lastname: Gallin
authors.forename: R W
authors.initials: RW
authors.lastname: Miller
authors.forename: A D
authors.initials: AD
authors.lastname: Auerbach
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics; D000328:Adult; D000741:Anemia, Aplastic / Q000235:genetics*; D001853:Bone Marrow / Q000473:pathology; D002648:Child; D005199:Fanconi Anemia / Q000235:genetics*; D005260:Female; D006402:Hematologic Diseases / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D006412:Hematopoietic Stem Cells / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics; D008297:Male; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics; D011247:Pregnancy; D014076:Tooth Diseases / Q000235:genetics