[Aniridia associated with gonadoblastoma in Smith-Lemli-Opitz syndrome (author's transl)].
One case of bilateral "in situ" gonadoblastoma associated with aniridia and Smith-Lemli-Opitz syndrom is reported. This observation confirms the incidence of gonadoblastoma in intersex patients. Coincidence of this tumor and aniridia is considered by the authors as previously unreported.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001706:Biopsy; D003937:Diagnosis, Differential; D012734:Disorders of Sex Development / Q000150:complications*; D004407:Dysgerminoma / Q000150:complications*; D006066:Gonads / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities*; D008297:Male
Asociación de aniridia con tumor embrionario no renal (gonadoblastoma) en niño con síndrome de Smith-Lemli-Opitz