ESPE Abstracts

Case Report: Novel case of short stature and co-occurrence of SHOX gene mutation and Fanconi Anemia. Fanconi anemia (FA) is a rare congenital disorder caused by mutations in any of over 16 documented genes leading to chromosomal fragility. Patients may present with physical manifestations including short stature or upper limb deformities, hematologic manifestations including progressive pancytopenia, or oncologic manifestations including solid tumors. Short stature (>2 SD ...