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Text
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URL Address
<a href="http://doi.org/10.3109/15513818609025925" target="_blank" rel="noreferrer">http://doi.org/10.3109/15513818609025925</a>
Dublin Core
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Title
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Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis
Publisher
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Pediatric Pathology / Affiliated With The International Paediatric Pathology Association
Date
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1986
Subject
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Chromosome Disorders; Female; Humans; Syndrome; infant; Skin/pathology; Genes; Recessive; Fibromatosis; Hyalin/metabolism; Chromosome Aberrations/genetics/pathology; Contracture/genetics/pathology; Gastrointestinal Diseases/pathology; Gingival/genetics/pathology; Intestinal Mucosa/pathology; Skin Diseases/pathology
Creator
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Landing BH; Nadorra R
Description
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Four female Mexican-American infants, two siblings, had widespread deposit of hyaline material in skin, gastrointestinal tract, adrenals, urinary bladder, ovaries, skeletal muscles, thymus, parathyroids, and other loci. Clinical features included thickness and focal nodularity of skin, relatively short limbs and neck, gum hypertrophy, hypotonia and reduced movement, joint contractures, osteoporosis, growth failure, diarrhea, and recurrent infections. Clinical onset was in the first week, and all 4 patients died by age 20 months. Infantile systemic hyalinosis appears to be a specific, presumably autosomal recessive, genetic disease, differing from the disorder called systemic hyalinosis, juvenile hyaline fibromatosis, or Puretic syndrome. The biochemical defect and the pathogenetic mechanisms responsible for the pathologic and clinical features of this condition remain to be established.
1986
Identifier
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<a href="http://doi.org/10.3109/15513818609025925" target="_blank" rel="noreferrer">10.3109/15513818609025925</a>
Rights
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
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Journal Article
1986
Backlog
Chromosome Aberrations/genetics/pathology
Chromosome Disorders
Contracture/genetics/pathology
Female
Fibromatosis
Gastrointestinal Diseases/pathology
Genes
Gingival/genetics/pathology
Humans
Hyalin/metabolism
Infant
Intestinal Mucosa/pathology
Journal Article
Landing BH
Nadorra R
Pediatric Pathology / Affiliated With The International Paediatric Pathology Association
Recessive
Skin Diseases/pathology
Skin/pathology
Syndrome