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Can I read Differential Diagnosis of Pseudotrisomy 13 Syndrome on EtoBox?
Differential Diagnosis of Pseudotrisomy 13 Syndrome by Carlón, Danízar Vásquez; de la Rosa Rodríguez, Margarita Alvarez; Pérez, Ana I. Padilla; Wallin, Ingrid Martínez; Luque, Juan M. Troyano is a Medicine article available to read on EtoBox.
What is Differential Diagnosis of Pseudotrisomy 13 Syndrome about?
## Abstract Pseudotrisomy 13 syndrome is determined by the combination of three findings: holoprosencephaly, postaxial polydactyly, and a normal karyotype. We report two cases of a prenatal diagnosis of pseudotrisomy 13 syndrome and one case of a suspected hydrolethalus syndrome, another disorder with a similar phenotype and karyotype. Thorough literature search yields limited information, and the genetic cause of this syndrome remains unclear; however, it is thought to be monogenic and inherited as an autosomal recessive disorder. Given the poor prognosis and the easily recognizable malformations associated with this disease, it is important to perform an early diagnosis.
Who reads Differential Diagnosis of Pseudotrisomy 13 Syndrome?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- Carlón, Danízar Vásquez; de la Rosa Rodríguez, Margarita Alvarez; Pérez, Ana I. Padilla; Wallin, Ingrid Martínez; Luque, Juan M. Troyano
- Publisher
- Walter de Gruyter GmbH; De Gruyter Open Ltd. (ISSN 2192-8932)
- Published
- 2012
- Language
- EN
- Field
- Medicine (Health Sciences)