KaydedilenlerDerginizi ekleyin

Dergiler / Journal of Clinical Research in Pediatric Endocrinology / 2015 / Cilt: 7 - Sayı: 1

A Case of Thanatophoric Dysplasia Type 2 A Novel Mutation

Selvi GÜLAŞI
Aytuğ ATICI
YALÇIN ÇELİK
Sayfa
73–76
DOI
—
🏛️Bu makalenin bibliyografik verileri ve tam metin bağlantısı DergiPark üzerinden sağlanmıştır.
DergiPark Kaydı ↗
✨

Yapay Zeka Hızlı Bakış & Çıkarımlar

AI Insight
⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

We report a male patient who showed clinical findings congruent with TD type 2 and a new mutation in the FGFR3 gene, a finding which has not been reported previously

📌 3 Maddede Bu Makale

🎯
Amaç & Hipotez:Thanatophoric dysplasia (TD) is a lethal form of skeletal dysplasia with shortlimb dwarfism.
📊
Temel Bulgular & Veri:The femur is curved in type 1, while it is straight in type 2.
💡
Sonuç & Katkı:We report a male patient who showed clinical findings congruent with TD type 2 and a new mutation in the FGFR3 gene, a finding which has not been reported previously
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Abstract

Thanatophoric dysplasia (TD) is a lethal form of skeletal dysplasia with shortlimb dwarfism. Two types distinguished with their radiological characteristics have been defined clinically. The femur is curved in type 1, while it is straight in type 2. TD is known to be due to a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. We report a male patient who showed clinical findings congruent with TD type 2 and a new mutation in the FGFR3 gene, a finding which has not been reported previously

🔖

Bu Makaleye Atıf Yap

GÜLAŞI, S., ATICI, A., ÇELİK, Y. (2015). A Case of Thanatophoric Dysplasia Type 2 A Novel Mutation. Journal of Clinical Research in Pediatric Endocrinology, Cilt: 7 - Sayı: 1, 73–76. https://ajindex.com/articles/270522

📄 Tam Metin PDF Okuyucu

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (13)

  1. Maroteaux P, Lamy M, Robert JM. Thanatophoric dwarfism. Presse Med 1967;75:2519-2524.
  2. Orioli IM, Castilla EE, Barbosa-Neto JG. The birth prevalence rates for the skeletal dysplasias. J Med Genet 1986;23:328-332. Hevner RF. The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis. Acta Neuropathol 2005;110:208-221.
  3. Sawai H, Komori S, Ida A, Henmi T, Bessho T, Koyama K. Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results. Prenat Diagn 1999;19:21-24.
  4. Langer LO Jr, Yang SS, Hall JG, Sommer A, Kottamasu SR, Golabi M, Krassikoff N. Thanatophoric dysplasia and clover-leaf skull. Am J Med Genet Suppl 1987;3:167-179. Swischuk L. Imaging of the newborn, infant and young child, 5th ed. Philadelphia, PA: Lippincott Williams & Wilkins, 2004.
  5. Norman AM, Rimmer S, Landy S, Donnai D. Thanatophoric dysplasia of the straight-bone type (type 2). Clin Dysmorphol 1992;1:115-120
  6. Chen CP, Chern SR, Shih JC, Wang W, Yeh LF, Chang TY, Tzen CY. Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia. Prenat Diagn 2001;21:89-95
  7. De Biasio P, Prefumo F, Baffico M, Baldi M, Priolo M, Lerone M, Tomà P, Venturini PL. Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation. Prenat Diagn 2000;20:835-837.
  8. Lemyre E, Azouz EM, Teebi AS, Glanc P, Chen MF. Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. Can Assoc Radiol J 1999;50:185-197.
  9. Coulter CL, Leech RW, Brumback RA, Schaefer GB. Cerebral abnormalities in thanatophoric dysplasia. Childs Nerv Syst 1991;7:21-26.
  10. Kalache KD, Lehmann K, Chaoui R, Kivelitz DE, Mundlos S, Bollmann R. Prenatal diagnosis of partial agenesis of corpus callosum in a fetus with thanatophoric dysplasia type 2. Prenat Diagn 2002;22:404-407.
  11. MacDonald IM, Hunter AG, MacLeod PM, MacMurray SB. Growth and development in thanatophoric dysplasia. Am J Med Genet 1989;33:508-512.
  12. Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 1995;9:321-328.
  13. Tavormina PL, Rimoin DL, Cohn DH, Zhu YZ, Shiang R, Wasmuth JJ. Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain