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PubMed · 14981721

Human disorganization complex, as a polytopic blastogenesis defect: a new case.

Wilmer Noé Delgado Luengo·María Luisa Hernández Rodríguez·Ivonne Valbuena Pirela·Sandra González Ferrer·Pedro Estrada Corona·Inara Chacón Fonseca·Juana Delgado Luengo·Alisandra Morales-Machín·Lisbeth Borjas Fuentes·María Caridad Martínez Basalo·José Chacín
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Abstract

We describe a baby girl of 4,000 g and 55 cm with supernumerary, malformed, and partially duplicated lower limbs, malformed and partially duplicated pelvis, spina bifida, coccygeal dermal sinus, ectopic anus located in the right buttock, duplicated internal genitalia, rectovaginal fistula, ileal atresia, Meckel diverticulum, and various renal system anomalies. We think that this phenotype is a new case of disorganization in humans (DsH) and postulate that this condition constitutes a polytopic defect of the blastogenesis. In this case, the presence of a malformation pattern involving structures in different parts of the body and organs derived from all of the germ layers, suggests that the pathogenetic event most probably occurred during blastogenesis affecting various progenitors fields.

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Abnormalities, MultipleFemaleHumansInfant, NewbornLumbar VertebraeLymphocyte ActivationMorphogenesisRadiographySyndromeCase ReportsJournal Article

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Wilmer Noé Delgado Luengo, María Luisa Hernández Rodríguez, Ivonne Valbuena Pirela, Sandra González Ferrer, Pedro Estrada Corona, Inara Chacón Fonseca, Juana Delgado Luengo, Alisandra Morales-Machín, Lisbeth Borjas Fuentes, María Caridad Martínez Basalo, José Chacín. 2004-03-01. Human disorganization complex, as a polytopic blastogenesis defect: a new case.. https://doi.org/10.1002/ajmg.a.20307

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