[Blackfan-Diamond disease with ambiguous genitalia].
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.
Bertolani
M F
MF
Istituto di Clinica Pediatrica, Università di Modena, Italia.
Baroncini
A
A
Marotti
F
F
Scalera
E
E
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
Malattia di Blackfan-Diamond con genitali ambigui.