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Aniridia associated with gonadoblastoma in Smith-Lemli-Opitz syndrome

Gracia, R.; Nieto, J.A.; Nistal, M.; Iturriaga, R.; Lledó, G.; Barrio, R.; Lama, R.

Anales Espanoles de Pediatria 9(8): 19-24

1976

ISSN/ISBN: 0302-4342
PMID: 1015678
Document Number: 104100
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.

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Nagao, M.; Iwadate, K.; Zhang, W.D.; Takahashi, H.; Yamada, Y.; Suzuki, H.; Takatori, T. 1994: An autopsy case of Smith-Lemli-Opitz syndrome Nihon Hoigaku Zasshi 48(4): 274-278
De Die-Smulders, C.; Fryns, J.P. 1992: Smith-Lemli-Opitz syndrome: the changing phenotype with age Genetic Counseling 3(2): 77-82
Calvani, M.; Tirasacchi, V.; Toscano, V.; Bellussi, A.; Fortuna, C. 1979: Early the larche and hyperprolactinemia in the Smith-Lemli-Opitz syndrome Minerva Pediatrica 31(23): 1721-1732
Fehlow, P. 1988: Contribution to the differential diagnosis of Smith-Lemli-Opitz syndrome Padiatrie und Grenzgebiete 27(4): 331-335
Lima-Martínez, M.M.; Zerpa, J.é; Gil, V. 2014: Smith-Lemli-Opitz syndrome and hypothyroidism: the first Venezuelan case Investigacion Clinica 55(3): 260-265
Pietrzyk, J.J.; Majerska, B.; Pieniazek, M. 1983: Smith-Lemli-Opitz syndrome in a female newborn infant Pediatria Polska 58(7): 663-666
Gemme, G.; Bonioli, E.; Ruffa, G.; Sbolgi, P. 1978: Smith-Lemli-Opitz syndrome. Description of 2 cases and review of the literature Minerva Pediatrica 30(10): 805-810
Mücke, J.; Sandig, K.R.; Brückner, H.G. 1977: Variability of the Smith-Lemli-Opitz syndrome. Report on 2 additional cases Padiatrie und Grenzgebiete 16(4): 221-228
Wolski, J.K.; Krajewska-Walasek, M.; Szymkiewicz, C. 1998: Congenital malformations of the genitourinary tract in children with Smith-Lemli-Opitz syndrome Wiadomosci Lekarskie 51(Suppl 3): 129-133
Hasui, M.; Saito, C.; Kasama, T.; Taki, T.; Yachie, A. 1997: Identification of impaired cholesterol biosynthesis in a Japanese patient of Smith-Lemli-Opitz syndrome No to Hattatsu 29(1): 61-66
Starck, L.; Björkhem, I.; Lund, E.; von Döbeln, U. 1995: New possibilities for children with Smith-Lemli-Opitz syndrome. A cholesterol synthesis defect discovered Lakartidningen 92(37): 3325-6 3329
Armendares, S.; Carnevale, A.; Del Castillo, V.; Najar Aparicio, A. 1973: Smith-Lemli-Opitz syndrome: description of 2 affected brothers, clinical characterization and hereditary mechanism Revista de Investigacion Clinica; Organo del Hospital de Enfermedades de la Nutricion 25(2): 129-142
Kofer, J. 1976: Differential diagnosis of mentally retarded children--report of 2 cases on the Smith-Lemli-Opitz syndrome Ceskoslovenska Pediatrie 31(8): 465-466
Mizushima, A.; Satoyoshi, M. 1988: Unusual responses of muscular rigidity and hypothermia to halothane and succinylcholine; a case report of Smith-Lemli-Opitz (SLO) syndrome Masui. Japanese Journal of Anesthesiology 37(9): 1118-1123
Mochon, M.C.; Blanc, J.F.; Plauchu, H.; Philip, T. 1987: WAGR syndrome, Wilms' tumor, aniridia, gonadoblastoma, mental retardation: a review apropos of 2 cases Pediatrie 42(4): 249-252
Verma, I.C.; Ghai, O.P. 1971: Smith-Lemlie-Opitz syndrome in an Indian child Indian Pediatrics 8(5): 221-222
Maggio, M.C.; Liotta, A.; De Grazia, E.; Cimador, M.; Di Pace, R.; Corsello, G. 2007: Polycystic ovary and gonadoblastoma in Turner's syndrome Minerva Pediatrica 59(4): 397-401
Oberklaid, F.; Danks, D.M. 1975: The Opitz trigonocephaly syndrome. A case report American Journal of Diseases of Children 129(11): 1348-1349
Schaap, C.; Schrander-Stumpel, C.T.; Fryns, J.P. 1992: Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly Genetic Counseling 3(4): 209-215
Hanicka, M.; Stepniewska-Rylska, M.; Binda, M. 1979: Rare malformation syndrome in a newborn infant (the Smith-Theiler-Schachenmann syndrome) Pediatria Polska 54(1): 93-94