Congenital anomalies with pancytopenia: the vital role of physical examination in the diagnosis

Abstract

Fanconi anemia is a rare autosomal recessive inherited disorder impacting the interstrand cross-link DNA repair pathway, leading to systemic and hematologic manifestations as well as an increased susceptibility to malignancies. Diagnosing FA involves a comprehensive approach, combining physical examinations, clinical investigations, and genetic analysis. In this report, we present the case of an 11-year-old girl with FA who exhibited notable physical characteristics such as short stature, microcephaly, hyperpigmentation, and bifid thumbs in both hands, coupled with the hematologic complication of pancytopenia. The challenge often lies in the delay of identifying physical findings, given the variable and subtle nature of these anomalies. Although genetic analysis confirms the diagnosis, the child had regular visits to pediatrician elsewhere for immunization, congenital anomalies, hyperpigmentation, short stature and received blood transfusions, this delay in recognizing physical manifestations underscores the need for heightened awareness among healthcare professionals to ensure an early diagnosis.