Citation, DOI, disclosures and article data
Citation:
Machang'a K, Sharma R, Knipe H, Gardner-Silengo-Wachtel syndrome. Reference article, Radiopaedia.org (Accessed on 21 Mar 2025) https://radiopaedia.org/articles/177966
Gardner-Silengo-Wachtel syndrome, also known as genito-palato-cardiac syndrome, is a rare male (46XY) gonadal dysgenesis condition that is assumed to be either an X-linked recessive or an autosomal recessive disorder 1.
The estimated incidence is at <1 in 1,000,000 live births.
Associations
History and etymology
Gardner et al. first described a phenotypic female with cleft palate, micrognathia, kyphoscoliosis, and club feet in 1970 while Silengo et al. first proposed the chromosomal origin of the syndrome in 1974. Greenberg et al. was the first to use the term Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome in 1987 1.
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1. Golabi M, James A, Desai N, Culver K, Cotter P. Gardner-Silengo-Wachtel or Genito-Palato-Cadiac Syndrome with Associated Autosomal Aneuploidy. Am J Med Genet. 2009;149A(4):693-7. doi:10.1002/ajmg.a.32755 - Pubmed
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2. Wachtel, S. S. H-Y Antigen and the Biology of Sex Determination. New York: Grune and Stratton (pub.) 1983
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3. Gardner L, Assemany S, Neu R. 46, XY Female: Anti-Androgenic Effect of Oral Contraceptive? Lancet. 1970;2(7674):667-8. doi:10.1016/s0140-6736(70)91441-8 - Pubmed
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4. Greenberg F, Gresik M, Carpenter R, Law S, Hoffman L, Ledbetter D. The Gardner-Silengo-Wachtel or Genito-Palato-Cardiac Syndrome: Male Pseudohermaphroditism with Micrognathia, Cleft Palate, and Conotruncal Cardiac Defect. Am J Med Genet. 1987;26(1):59-64. doi:10.1002/ajmg.1320260111 - Pubmed
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