Journals / Journal of Clinical Research in Pediatric Endocrinology / 2016 / Cilt: 8 - Sayı: 3

Crouzonodermoskeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis

Pages
373–374
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

These patients should be investigated for other possible cranial MRI findings

📌 3 Key Takeaways

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Objective & Hypothesis:hypoplasia of corpus callosum and inferior vermis.
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Key Findings & Data:This association may be coincidental.
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Conclusion & Impact:These patients should be investigated for other possible cranial MRI findings
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

hypoplasia of corpus callosum and inferior vermis. This association may be coincidental. These patients should be investigated for other possible cranial MRI findings

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Cite This Article

GÜRBÜZ, F., CEYLANER, S., TOPALOĞLU, A. K., YÜKSEL, B. (2016). Crouzonodermoskeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis. Journal of Clinical Research in Pediatric Endocrinology, Cilt: 8 - Sayı: 3, 373–374. https://ajindex.com/articles/219009

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References (2)

  1. Di Rocco F, Collet C, Legeai-Mallet L, Arnaud E, Le Merrer M, Hadj-Rabia S, Renier D. Crouzon syndrome with acanthosis vnigricans: a case-based update. Childs Nerv Syst 2011;27:349-354. Epub 2010 Dec 7 Wilkes D, Rutland P, Pulleyn LJ, Reardon W, Moss C, Ellis JP, Winter RM, Malcolm S. A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. J Med Genet 1996;33:744-748. Horton WA. Recent milestones in achondroplasia research. Am J Med Genet 2006;140:166-169.
  2. Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet 1995;11:462-464. Arnaud-López L, Fragoso R, Mantilla-Capacho J, Barros-Nşñez P. Crouzon with acanthosis nigricans. Further delineation of the syndrome. Clin Genet 2007;72:405-410.