Fanconi anemia (FA) is a rare plurimalformative syndrome (1/350,000 newborns) presenting a large phenotypic heterogeneity, chromosomal instability and autosomal recessive inheritance (OMIM 227650).
Case presentation: Male patient followed in the genetics service since infancy, till death. The child was referred for multiple congenital anomalies: bilateral aplasia of the radius and thumb, left kidney agenesis, cardiac malformation cleft palate, bilateral cryptorchidism, ear anomalies, which were associated, in time, with facial hyperpigmentation, anomalies of dental eruption, nasal septum deviation, and lumbar scoliosis. By the age of 10 years, he develop progressive pancytopenia, aplastic anemia. The diagnosis was completed by medulogram, immunogram, and karyotype. Treatment was primarily hematologic with substitution products, immunosuppressive, marrow stimulants, antibiotic therapy. Death occurred at age of 16 by infection and pulmonary hemorrhage occurred in severe pancytopenia.
Conclusions: It is presented a rare case of Fanconi anemia customized by the clinical association with cleft palate and instructive clinical and evolutionary complexity.