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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
1

Cráneo en trébol y fisura facial bilateral / Cloverleaf skull and bilateral facial clefts

Alvarez Manassero, Denisse, Manassero Morales, Gioconda 15 October 2015 (has links)
Introduction Cloverleaf skull syndrome, or Kleeblattschädel syndrome, is a rare malformation in which the skull has a cloverleaf appearance. It is caused by the premature closure of several sutures, being evident before birth. Objective To present our experience in a case of cloverleaf skull syndrome, and update the information from the literature. Clinical case A female infant of 5 months of age, diagnosed at birth with cleft lip and palate and hydrocephaly. A peritoneal ventricle valve was implanted at 30 days of life, and an ocular enucleation was performed due to an infectious process. The patient was followed-up in Genetics, where it confirmed a macrocephaly and craniosynostosis type cloverleaf skull. The 46XX cytogenetic study and echocardiography were normal. The brain CT scan showed multiple anomalies associated with hydrocephaly and non-specific malformations. Conclusion Cloverleaf skull may be present in isolated form or associated with other congenital abnormalities, leading to various craniosynostosis syndromes, such as Crouzon, Pfeiffer or Carpenter. It may also be a component of the amniotic rupture sequence or to different dysplasias, such as campomelic dysplasia, thanatophoric dysplasia type 2, or the asphyxiating thoracic dystrophy of Jeune. The case presented does not fulfil all the characteristics needed to be included within a specific syndrome, and on not having a family history that suggests a hereditary pattern or chromosome abnormalities, it is concluded that it is a case of a congenital anomaly of sporadic presentation. / Introducción El síndrome del cráneo en trébol, o síndrome de Kleeblattschädel, es una malformación rara en la cual el cráneo presenta un aspecto de trébol. Es causado por el cierre prematuro de varias suturas, evidenciándose desde antes del nacimiento. Objetivo presentar nuestra experiencia en un caso de síndrome del cráneo en trébol, y actualizar la información de la literatura. Caso clínico lactante de sexo femenino, 5 meses de edad, diagnósticos al nacimiento de Fisura labio-Palatina e Hidrocefalia. A los 30 dias de vida se instaló valvula ventrículo peritoneal, y se procedió a enucleación ocular bilateral por proceso infeccioso. Se controla en Genética donde se confirma macrocefalia y craneosinostosis tipo cráneo en trébol. El estudio citogenético 46XX, Ecocardiografía normal, TAC de cerebro mostró anomalias múltiples asociadas a hidrocefalia y malformaciones inespecíficas. Conclusion El cráneo en trébol puede presentarse aisladamente o asociado a otras anomalías congénitas, conformando varios síndromes de craneosinostosis, como Crouzon, Pfeiffer o Carpenter. También puede ser componente de la secuencia de rotura amniótica o de diversas displasias, como la campomélica, tanatofórica tipo ii, o la distrofia torácica asfixiante de Jeune. El caso descrito no cumple con todas las características necesarias para incluirlo dentro de un síndrome específico, y no habiendo antecedentes familiares que sugieran patrón de herencia ni anomalías cromosómicas se concluye que se trata de un caso de anomalías congénitas de presentación esporádica. / Revisión por pares

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