Dominantly transmitted hematologic dysfunction clinically similar to Fanconi's anemia.
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.
Alter
C L
CL
Division of Hematology and Oncology, George Washington University Medical School, Washington, D.C.
Levine
P H
PH
Bennett
J
J
Kessler
C
C
Rick
M
M
Washburn
R G
RG
Gallin
J I
JI
Miller
R W
RW
Auerbach
A D
AD
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