Blackfan-Diamond disease with ambiguous genitalia
Bertolani, M.F.; Baroncini, A.; Marotti, F.; Scalera, E.
La Pediatria Medica e Chirurgica Medical and Surgical Pediatrics 15(6): 589-591
1993
ISSN/ISBN: 0391-5387 PMID: 7910959 Document Number: 408400
The Authors describe a case of Blackfan-Diamond anemia with ambiguous genitalia and other minor anomalies. They point out the elements of differential diagnosis with other precocious erythroblastopenic conditions and suppose a recessive inheritance of the disease because of family consanguinity in two generations.