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Journals / Göztepe Tıp Dergisi / 2014 / Cilt: 29 - Sayı: 1

Yarık el/yarık ayak malformasyonlu bir aile

Split-hand, and split-foot malformations: A family

Ali KARAMAN
Bilge GEÇKİNLİ
Tülay TOS
Hatip AYDIN
Sebahattin ATAOĞLU
Pages
69–72
Publication Date
2022-10-17
DOI
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AI Summary & Key Takeaways

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

Herein we have presented the family that had congenital cleft hand and foot deformity.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Hand and foot functions of the cases with cleft hand and foot deformities are usually good.
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Key Findings & Data:Autosomal recessive inheritance is frequently seen in a patient with a family history of cleft hand and foot.
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Conclusion & Impact:Herein we have presented the family that had congenital cleft hand and foot deformity.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Hand and foot functions of the cases with cleft hand and foot deformities are usually good. Autosomal recessive inheritance is frequently seen in a patient with a family history of cleft hand and foot. However, our cases had autosomal dominant inheritance trait. Herein we have presented the family that had congenital cleft hand and foot deformity.

Özet

Yarık el/yarık ayak malformasyonlu bir aileYarık el ve ayak deformiteleri bulunan olgularda el ve ayak fonksiyonları genellikle iyidir. Ailesinde yarık el ve ayak bulunan durumlarda sıklıkla otozomal resesif geçiş mevcuttur. Ancak, olgularımız otozomal dominant geçişe sahipti. Biz burada doğuştan yarık el ve ayak deformitesi olan bir aileyi sunduk.

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Cite This Article

KARAMAN, A., GEÇKİNLİ, B., TOS, T., AYDIN, H., ATAOĞLU, S. (2022). Yarık el/yarık ayak malformasyonlu bir aile. Göztepe Tıp Dergisi, Cilt: 29 - Sayı: 1, 69–72. https://ajindex.com/articles/526031

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References (13)

  1. Yang A, Schweitzer R, Sun D, et al. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature 1999;398:714-718.
  2. Mills AA, Zheng B, Wang XJ, et al. p63 is a p53 homologue required for limb and epidermal morphogenesis. Nature 1999;398:708-713.
  3. Basel D, Kilpatrick MW, Tsipouras P. The expanding panorama of split hand foot malformation. Am J Med Genet A 2006;140:1359-1365
  4. Simeone A, Acampora D, Pannese M, et al. Cloning and characterization of two members of the vertebrate Dlx gene family. Proc Natl Acad Sci USA 1994;91:2250-2254.
  5. Crackower MA, Scherer SW, Rommens JM, et al. Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3 - q22.1 and analysis of a candidate gene for its expression during limb development. Hum Mol Genet 1996;5:571-579.
  6. Merlo GR, Paleari L, Mantero S, et al. Mouse model of split hand/ foot malformation type I. Genesis 2002;33:97- 101.
  7. Robledo RF, Rajan L, Li X, Lufkin T. The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal development. Genes Dev 2002; 16: 1089-1101.
  8. Panganiban G. Distal-less function during Drosophila appendage and sense organ development. Dev Dyn 2000; 218: 554-562. http://dx.doi.org/10.1002/1097-0177(200008)218:4_____ 554::AID-DVDY1023>3.0.CO;2-# 9. Merlo GR, Zerega B, Paleari L et al. Multiple functions of Dlx genes. Int J Dev Biol 2000;44:619-626
  9. Zerucha T, Ekker M. Distal-less-related homeobox genes of vertebrates: evolution, function, and regulation. Biochem Cell Biol 2000;78:593-601.
  10. Ghanem N, Jarinova O, Amores A, et al. Regulatory roles of conserved intergenic domains in vertebrate Dlx bigene clusters. Genome Res 2003;13:533-543.
  11. Stock DW, Ellies DL, Zhao Z, et al. The evolution of the vertebrate Dlx gene family. Proc Natl Acad Sci USA 1996; 93:10858-10863.
  12. Park BK, Sperber SM, Choudhury A, et al. Intergenic enhancers with distinct activities regulate Dlx gene expression in the mesenchyme of the branchial arches. Dev Biol 2004;268:532-545.
  13. Barsky AJ. Cleft Hand: Classification,