TYPE-I THANATOPHORIC DYSPLASIA: UNRAVELING A LETHAL SKELETAL DISORDER

Dr.A. Hariprasad

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TYPE-I THANATOPHORIC DYSPLASIA: UNRAVELING A LETHAL SKELETAL DISORDER

Vol. 1 No. 03 (2015): Volume 01 Issue 03 | Pages: 01-04 |

Authors

Dr.A. Hariprasad
Professor of Radiology, GITAM Institute of Medical Sciences &Research, Rushikonda, Visakhapatnam, India

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Published Date: 2015-09-03
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This work is licensed under a Creative Commons Attribution 4.0 International License.

Authors retain the rights to their work published in the International Journal of Medical Science and Dental Health and may republish or reproduce their own work, provided proper citation to the original publication in IJMSDH is included.

How to Cite

Dr.A. Hariprasad. (2015). TYPE-I THANATOPHORIC DYSPLASIA: UNRAVELING A LETHAL SKELETAL DISORDER. International Journal of Medical Science and Dental Health, 1(03), 01-04. https://www.ijmsdh.org/index.php/ijmsdh/article/view/80

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Abstract

Type-I Thanatophoric Dysplasia is an uncommon and severe skeletal disorder characterized by abnormal bone development, leading to a lethal outcome shortly after birth. This research aims to unravel the complexities of Type-I Thanatophoric Dysplasia by conducting a comprehensive analysis of existing literature, clinical cases, and genetic data. The study delves into the disorder's pathophysiology, clinical manifestations, diagnostic methods, and available management strategies. By gaining a deeper understanding of this lethal skeletal disorder, the research contributes valuable insights to the medical community for providing appropriate prenatal counseling, support, and potential therapeutic interventions to affected individuals and their families.

Keywords:

skeletal dysplasia, lethal skeletal disorder, abnormal bone development

References

Ldr Sq, Sahu S, Cdr Wg, Kaur P. Thanatophoric Dysplasia: Antenatal Diagnosis. Med J Armed Forces India 2009;65:87-8.

Martínez-Frías ML, Ramos-Arroyo MA, Salvador J. Thanatophoric dysplasia: An autosomal dominant condition? Am J Med Genet 1988;31:815-20.

Orioli I, Castilla EE, Barbosa-Neto JG. The birth prevelance rates for the skeletal dysplasias. J Med Genet 1986;23:328-32.

NeelimaTirumalasetti Case report of Thanatophoric dysplasia: A lethal skeletal dysplasia : 2013 Volume : 2(4) Page : 275-277

Fink AM, Hingston T, Sampson A, Ng J, Palma-Dias R. Malformation of the fetal brain in thanatophoric dysplasia: US and MRI findings. Pediatr Radiol 2010;40 Suppl 1:S134-7.

Edeiken J, Rhodes PJ. Thanatophoric dysplasia. In: Roentgen Diagnosis of Diseases of Bone. 2nd ed., Vol. 1. Baltimore: The Williams and Wilkins Company; 1973. p. 75-6.

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