Differential diagnosis of pseudotrisomy 13 syndrome
- Danízar Vásquez Carlón 1
- Margarita Álvarez de la Rosa Rodríguez 1
- Ana I. Padilla Pérez 1
- Ingrid Martínez Wallin 1
- Juan M. Troyano Luque 1
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1
Universidad de La Laguna
info
ISSN: 2192-8959, 2192-8932
Año de publicación: 2012
Volumen: 1
Número: 1-2
Tipo: Artículo
Otras publicaciones en: Case Reports in Perinatal Medicine
Resumen
: Pseudotrisomy 13 syndrome is determined bythe combination of three findings: holoprosencephaly,postaxial polydactyly, and a normal karyotype. We reporttwo cases of a prenatal diagnosis of pseudotrisomy 13syndrome and one case of a suspected hydrolethalus syndrome, another disorder with a similar phenotype andkaryotype. Thorough literature search yields limited information, and the genetic cause of this syndrome remainsunclear; however, it is thought to be monogenic andinherited as an autosomal recessive disorder. Given thepoor prognosis and the easily recognizable malformationsassociated with this disease, it is important to perform anearly diagnosis.
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