title: [Blackfan-Diamond disease with ambiguous genitalia].
abstract: 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.
authors.affiliation: Istituto di Clinica Pediatrica, Università di Modena, Italia.
authors.forename: M F
authors.initials: MF
authors.lastname: Bertolani
authors.forename: A
authors.initials: A
authors.lastname: Baroncini
authors.forename: F
authors.initials: F
authors.lastname: Marotti
authors.forename: E
authors.initials: E
authors.lastname: Scalera
mesh_terms: D000015:Abnormalities, Multiple; D003241:Consanguinity; D003456:Cryptorchidism / Q000150:complications*; D003937:Diagnosis, Differential; D005199:Fanconi Anemia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007021:Hypospadias / Q000150:complications*; D007223:Infant; D007668:Kidney / Q000002:abnormalities; D008297:Male; D010375:Pedigree
vernacular_title: Malattia di Blackfan-Diamond con genitali ambigui.