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Journals / Tanısal ve Girişimsel Radyoloji (Yeni Adı: Dİagnostic & Intervent. Radiol) / 2003 / Cilt: 9 - Sayı: 1

Case report: Rhisomelic chondrodypslasia punctata and foramen magnum stenosis in a newborn

Yenidoğanda rizomelik kondrodisplazi punktata ve foramen magnum stenozu

C. Türkay YALIN
İlkay Koray BAYRAK
Murat DANACI
Lütfi İNCESU
Pages
100–103
DOI
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AI Summary & Key Takeaways

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

Magnetic resonance imaging showed foramen magnum stenosis that caused spinal cord compression.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Chondrodysplasia punctata is a peroxisomal disorder which is a form of multiple epiphyseal dysplasia.
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Key Findings & Data:It is characterized by calcifications of unossified cartilaginous epiphyseal centers during the first year of life.
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Conclusion & Impact:Magnetic resonance imaging showed foramen magnum stenosis that caused spinal cord compression.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Kondrodisplazi punctata · Manyetik rezonans görüntüleme · Tanı

Abstract

Chondrodysplasia punctata is a peroxisomal disorder which is a form of multiple epiphyseal dysplasia. It is characterized by calcifications of unossified cartilaginous epiphyseal centers during the first year of life. Severe autosomal recessive rhisomelic form shows bilateral proximal shortening of the upper and lower limbs with punctate epiphyseal calcifications. We report radiological findings of a patient with rhisomelic chondrodysplasia punctata. Magnetic resonance imaging showed foramen magnum stenosis that caused spinal cord compression.

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Cite This Article

YALIN, C. T., BAYRAK, İ. K., DANACI, M., İNCESU, L. (2003). Case report: Rhisomelic chondrodypslasia punctata and foramen magnum stenosis in a newborn. Tanısal ve Girişimsel Radyoloji (Yeni Adı: Dİagnostic & Intervent. Radiol), Cilt: 9 - Sayı: 1, 100–103. https://ajindex.com/articles/363205

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References (15)

  1. Singh I, Johnson GH, Brown FR 3rd. Pero-xisomal disorders. Biochemical and clini-cal diagnostic considerations. Am J DisChild 1988; 142:1297-1301
  2. Silene D. Genetic skeletal dysplasias. In:Rudolph AM, Hoffman JIE, Rudolph CD.Rudolph’s Pediatrics. 20th ed. Norwalk,Conn: Appleton&Lange, 1996; 383
  3. Takano H, Smith WL, Sato Y, Kao SC.Cervical spine abnormalities and instabi-lity with myelopathy in warfarin-relatedchondrodysplasia: 17-year follow-up. Pe-diatr Radiol 1998; 28:497-499
  4. Silverman FN. C. John Hodson Lecture.Reflections on epiphyseal dysplasias. AJRAm J Roentgenol 1996; 167:835-82
  5. Poznanski AK. Punctate epiphyses: a radi-ological sign not a disease. Pediatr Radiol1994; 24:418-424
  6. Westvik J, Lachman RS. Coronal and sa-gittal clefts in skeletal dysplasias. PediatrRadiol 1998; 28:764-770 7. Viola A, Confort-Gouny S, Ranjeva JP,Chabrol B, Raybaud C, Vintila F, CozzonePJ. MR imaging and MR spectroscopy inrhizomelic chondrodysplasia punctata.AJNR Am J Neuroradiol 2002; 23:480-483
  7. Herman TE, Lee BC, McAlister WH.Brachytelephalangic chondrodysplasiapunctata with marked cervical stenosis andcord compression: report of two cases. Pe-diatr Radiol 2002; 32:452-456
  8. Resnick D, Peterson H. ChondrodysplasiaPunctata. Skeletal Radiol 1992; 389-390.10. Swischuk LE. Multiple epiphyseal dyspla-sia and spondyloepiphyseal dypslasia. Ra-diology of the Newborn and Young Infant1973; 455-456
  9. Kelly TE, Alford BA, Greer KM. Chond-rodysplasia punctata stemming from ma-ternal lupus erythematosus. Am J Med Ge-net 1999; 83:397-401
  10. Afshani E, Girdany BR. Atlanto-axial dis-location in chondrodysplasia punctata. Report of the findings in two brothers. Radi-ology 1972; 102:399-401
  11. Curless RG. Dominant chondrodysplasiapunctata with neurologic symptoms. Ne-urology 1983; 33:1095-1097
  12. Goodman P, Dominguez R. Cervicothora-cic myelopathy in Conradi-Hunermann di-sease: MRI diagnosis. Magn Reson Ima-ging 1990; 8:647-650
  13. Lachman RS. Neurologic abnormalities inthe skeletal dysplasias: a clinical and radi-ological perspective. Am J Med Genet1997; 69:33-43
  14. Lachman RS. The cervical spine in theskeletal dysplasias and associated disor-ders. Pediatr Radiol 1997; 27:402-408
  15. Khanna AJ, Braverman NE, Valle D,Sponseller PD. Cervical stenosis secon-dary to rhisomelic chondrodysplasia punc-tata. Am J Med Genet 2001; 99:63-66.