Dwarfism Research Today is a free monthly online journal that collates and summarizes the latest research about Dwarfism, including details on genetics, diet, mental and motor development.

A case report of a patient with microcephaly, facial dysmorphism, mitomycin-c-sensitive lymphocytes, and susceptibility to lymphoma.

Bakhshi S, Joenje H, Schindler D, Oostra A, Mohamed AN, Madgy D, Ravindranath Y, Abella E

Division of Pediatric Hematology and Oncology, Children's Hospital of Michigan, Detroit, MI, USA. sambakh@hotmail.com

We report on a 17-year-old boy with a unique lymphocyte mitomycin-C (MMC)-sensitive chromosomal breakage syndrome. He had failure to thrive, and has microcephaly, slight facial dysmorphism, and constitutional short stature but no other phenotypic or hematological manifestations of Fanconi anemia (FA). He developed B-cell lymphoma of the neck, which was treated with standard doses of alkylating agents. Major side effects related to chemotherapy did not occur. Normal erythrocyte corpuscular volume, MMC-insensitive fibroblasts, and the occurrence of lymphoma rather than AML sets this patient apart from typical FA. The combination of constitutional dwarfism, microcephaly, MMC-sensitive lymphocytes, and susceptibility to lymphoma represents an unusual constellation of symptoms among genetic disorders.

Published 25 January 2006 in Cancer Genet Cytogenet, 164(2): 168-71.
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