A case of non-Fanconi anemia bone marrow dysfunction with familial involvement.

N G Papadopoulos; E Papadaki; S Kitsiou-Tzeli; T Farmakakis; A Fretzayas

A case of non-Fanconi anemia bone marrow dysfunction with familial involvement.

N G Papadopoulos, E Papadaki, S Kitsiou-Tzeli, T Farmakakis, A Fretzayas

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Abstract

We report on a Greek girl with pancytopenia, short stature, clinodactyly, cleft palate, exopthalmus, strabismus, café-au-lait spots, and mild mental retardation in whom chromosomal analysis excluded Fanconi anemia. The occurrence of erythroleukemia in the family and the presence of macrocytosis in her father and low blood counts in her sister favor the diagnosis of an inherited syndrome of familial marrow dysfunction rather than that of a sporadic case.

Original language	English
Journal	Pediatric Hematology and Oncology
Volume	15
Issue number	3
Publication status	Published - 1998

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title = "A case of non-Fanconi anemia bone marrow dysfunction with familial involvement.",

abstract = "We report on a Greek girl with pancytopenia, short stature, clinodactyly, cleft palate, exopthalmus, strabismus, caf{\'e}-au-lait spots, and mild mental retardation in whom chromosomal analysis excluded Fanconi anemia. The occurrence of erythroleukemia in the family and the presence of macrocytosis in her father and low blood counts in her sister favor the diagnosis of an inherited syndrome of familial marrow dysfunction rather than that of a sporadic case.",

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year = "1998",

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T1 - A case of non-Fanconi anemia bone marrow dysfunction with familial involvement.

AU - Papadopoulos, N G

AU - Papadaki, E

AU - Kitsiou-Tzeli, S

AU - Farmakakis, T

AU - Fretzayas, A

PY - 1998

Y1 - 1998

N2 - We report on a Greek girl with pancytopenia, short stature, clinodactyly, cleft palate, exopthalmus, strabismus, café-au-lait spots, and mild mental retardation in whom chromosomal analysis excluded Fanconi anemia. The occurrence of erythroleukemia in the family and the presence of macrocytosis in her father and low blood counts in her sister favor the diagnosis of an inherited syndrome of familial marrow dysfunction rather than that of a sporadic case.

AB - We report on a Greek girl with pancytopenia, short stature, clinodactyly, cleft palate, exopthalmus, strabismus, café-au-lait spots, and mild mental retardation in whom chromosomal analysis excluded Fanconi anemia. The occurrence of erythroleukemia in the family and the presence of macrocytosis in her father and low blood counts in her sister favor the diagnosis of an inherited syndrome of familial marrow dysfunction rather than that of a sporadic case.

M3 - Article

C2 - 9615328

SN - 0888-0018

VL - 15

JO - Pediatric Hematology and Oncology

JF - Pediatric Hematology and Oncology

IS - 3

ER -

A case of non-Fanconi anemia bone marrow dysfunction with familial involvement.

Abstract

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