[Blackfan-Diamond disease with ambiguous genitalia].

Authors :: Bertolani MF
Baroncini A
Marotti F
Scalera E
Source :: La Pediatria medica e chirurgica : Medical and surgical pediatrics [Pediatr Med Chir] 1993 Nov-Dec; Vol. 15 (6), pp. 589-91.
Publication Year :: 1993
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.

Subjects :: Consanguinity
Diagnosis, Differential
Fanconi Anemia complications
Fanconi Anemia diagnosis
Humans
Infant
Kidney abnormalities
Male
Pedigree
Abnormalities, Multiple
Cryptorchidism complications
Fanconi Anemia genetics
Hypospadias complications

Language :: Italian
ISSN :: 0391-5387
Volume :: 15
Issue :: 6
Database :: MEDLINE
Journal :: La Pediatria medica e chirurgica : Medical and surgical pediatrics
Publication Type :: Academic Journal
Accession number :: 7910959

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