Genetic syndromes mimic congenital infections

A. Sanchis; L. Cerveró; A. Bataller; J. L. Tortajada; J. Huguet; Y. J. Crow; M. Ali; L. J. Higuet; M. L. Martínez-Frías

doi:10.1016/j.jpeds.2005.01.033

Genetic syndromes mimic congenital infections

A. Sanchis, L. Cerveró, A. Bataller, J. L. Tortajada, J. Huguet, Y. J. Crow, M. Ali, L. J. Higuet, M. L. Martínez-Frías

Research output: Contribution to journal › Article › peer-review

Abstract

Genetic syndromes that mimic congenital infection are important to recognize because of the associated risk of recurrence. We describe two brothers born to consanguineous parents with clinical features suggestive of intrauterine infection but with negative serologic investigations. Our observations suggest that Aicardi-Goutières syndrome (AGS) and pseudo-TORCH syndrome likely represent the same disorder. Copyright © 2005 Elsevier Inc. All rights reserved.

Original language	English
Pages (from-to)	701-705
Number of pages	4
Journal	Journal Of Pediatrics
Volume	146
Issue number	5
DOIs	https://doi.org/10.1016/j.jpeds.2005.01.033
Publication status	Published - May 2005

Keywords

Adult
Child
genetics: Craniofacial Abnormalities
Fatal Outcome
Female
Humans
Infant, Newborn
Magnetic Resonance Imaging
Male
Phenotype
Syndrome

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10.1016/j.jpeds.2005.01.033

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title = "Genetic syndromes mimic congenital infections",

abstract = "Genetic syndromes that mimic congenital infection are important to recognize because of the associated risk of recurrence. We describe two brothers born to consanguineous parents with clinical features suggestive of intrauterine infection but with negative serologic investigations. Our observations suggest that Aicardi-Gouti{\`e}res syndrome (AGS) and pseudo-TORCH syndrome likely represent the same disorder. Copyright {\textcopyright} 2005 Elsevier Inc. All rights reserved.",

keywords = "Adult, Child, genetics: Craniofacial Abnormalities, Fatal Outcome, Female, Humans, Infant, Newborn, Magnetic Resonance Imaging, Male, Phenotype, Syndrome",

author = "A. Sanchis and L. Cerver{\'o} and A. Bataller and Tortajada, {J. L.} and J. Huguet and Crow, {Y. J.} and M. Ali and Higuet, {L. J.} and Mart{\'i}nez-Fr{\'i}as, {M. L.}",

year = "2005",

month = may,

doi = "10.1016/j.jpeds.2005.01.033",

language = "English",

volume = "146",

pages = "701--705",

journal = "Journal Of Pediatrics",

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publisher = "Mosby, Incorporated",

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TY - JOUR

T1 - Genetic syndromes mimic congenital infections

AU - Sanchis, A.

AU - Cerveró, L.

AU - Bataller, A.

AU - Tortajada, J. L.

AU - Huguet, J.

AU - Crow, Y. J.

AU - Ali, M.

AU - Higuet, L. J.

AU - Martínez-Frías, M. L.

PY - 2005/5

Y1 - 2005/5

N2 - Genetic syndromes that mimic congenital infection are important to recognize because of the associated risk of recurrence. We describe two brothers born to consanguineous parents with clinical features suggestive of intrauterine infection but with negative serologic investigations. Our observations suggest that Aicardi-Goutières syndrome (AGS) and pseudo-TORCH syndrome likely represent the same disorder. Copyright © 2005 Elsevier Inc. All rights reserved.

AB - Genetic syndromes that mimic congenital infection are important to recognize because of the associated risk of recurrence. We describe two brothers born to consanguineous parents with clinical features suggestive of intrauterine infection but with negative serologic investigations. Our observations suggest that Aicardi-Goutières syndrome (AGS) and pseudo-TORCH syndrome likely represent the same disorder. Copyright © 2005 Elsevier Inc. All rights reserved.

KW - Adult

KW - Child

KW - genetics: Craniofacial Abnormalities

KW - Fatal Outcome

KW - Female

KW - Humans

KW - Infant, Newborn

KW - Magnetic Resonance Imaging

KW - Male

KW - Phenotype

KW - Syndrome

U2 - 10.1016/j.jpeds.2005.01.033

DO - 10.1016/j.jpeds.2005.01.033

M3 - Article

SN - 0022-3476

VL - 146

SP - 701

EP - 705

JO - Journal Of Pediatrics

JF - Journal Of Pediatrics

IS - 5

ER -

Genetic syndromes mimic congenital infections

Abstract

Keywords

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