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  Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome)

Knoblauch, H., Tennstedt, C., Brueck, W., Hammer, H., Vulliamy, T., Dokal, I., et al. (2003). Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). American Journal of Medical Genetics, 120A(2), 261-265. doi:10.1002/ajmg.a.20138.

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Genre: Journal Article
Alternative Title : Am J Med Genet

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 Creators:
Knoblauch, Hans1, Author
Tennstedt, Cornelia, Author
Brueck, Wolfgang, Author
Hammer, Hannes, Author
Vulliamy, Tom, Author
Dokal, Inderjeet, Author
Lehmann, Rüdiger, Author
Hanefeld, Folker, Author
Tinschert, Sigrid2, Author              
Affiliations:
1Max Planck Society, ou_persistent13              
2Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: TORCH; intracranial calcification; thrombocytopenia; cerebellar hypoplasia
 Abstract: Clinical, pathological, and X-ray findings of two brothers with features resembling congenital intrauterine infection-like syndrome are presented. Extensive screening for intrauterine infection was performed. Nevertheless all confirmatory tests were normal. Both brothers showed extensive intra- and extra-cranial calcifications, thrombocytopenia, a septum pellucidum cyst, one-sided paresis of the diaphragm, and metaphyseal changes on X-ray scans resembling intrauterine infection. Within the first days of life, they developed seizures and died from severe cerebral hemorrhage. The MRI scan of the brain showed cerebellar hypoplasia in one of the boys, while the cerebellum had normal size in the other. No indication of a metabolic disorder, especially in calcium metabolism, was identified. Due to the clinical overlap with Hoyeraal-Hreidarsson syndrome, mutations in the DKC1 gene (Xq28) and the hTR gene (RNA component of telomerase on chromosome 3q) have been excluded. The parents are non-consanguineous and further family history was unremarkable. The findings in these boys overlap with features described in congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome).

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Language(s): eng - English
 Dates: 2003-07
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 178164
DOI: 10.1002/ajmg.a.20138
 Degree: -

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Title: American Journal of Medical Genetics
  Alternative Title : Am J Med Genet
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 120A (2) Sequence Number: - Start / End Page: 261 - 265 Identifier: ISSN: 1096-8628
ISSN: 0148-7299