TYPE-I THANATOPHORIC DYSPLASIA: UNRAVELING A LETHAL SKELETAL DISORDER

Dr.A. Hariprasad

Open Access

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

Views: 466 Downloads: 56
Google Scholar

Published Date: 2015-09-03
Download PDF: PDF

Copyright License

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

More Citation Formats

Download Citation

Downloads

Download data is not yet available.

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.

Lam AC, Lam YY, Tong TM, et al. Thanatophoric dysplasia type 1 (TD1) without "telephone receivers". HK J Paediatr 2006;11:320-323

Machado LE, Bonilla-Musoles F, Osborne NG. Thanatophoric dysplasia. Ultrasound Obstet Gynecol 2001. Jul;18(1):85-86

Similar Articles

Mohammed Majid AL-qanbar, Sexual Dimorphism in Micronutrient Homeostasis and Cluster Depletion Patterns in Type 2 Diabetes Mellitus Patients with Hair Loss: Development and Validation of a Phenotype-Based Risk Stratification Tool , International Journal of Medical Science and Dental Health: Vol. 12 No. 06 (2026): Volume 12 Issue 06
Sunil Pant, UNVEILING THE CULPRITS: RISK FACTORS FOR PERIODONTAL DISEASES , International Journal of Medical Science and Dental Health: Vol. 3 No. 09 (2017): Volume 03 Issue 09
Dr. ANOUAR TITOU, Dr. IKRAME BEJJA, Dr. MOHAMMED ESSIOTI, Pr. ZAKIA DOUHI, Pr. FATIMA ZAHRAE MERNISSI, Pr. DOUNIA KAMAL, A Rare Case Of Desmoid Tumor In The Lower Mandibular Sector Of An Adolescent: Surgical Intervention And Outcomes , International Journal of Medical Science and Dental Health: Vol. 10 No. 10 (2024): Volume 10 Issue 10
Eman Aqeel Talib, Karar Abdulzahra Mahdi, Estabraq Faris Hammood, Ghufran Aqeel Talib, Oral Squamous Cell Carcinoma Cell Lines in Pharmacological Research: Models for Mechanistic Insights and Therapeutic Advancements , International Journal of Medical Science and Dental Health: Vol. 11 No. 10 (2025): Volume 11 Issue 10
Dr. Pramit Sen, Dr. Swagata Gayen, Dr. Sanjeet Kumar Das, Dr. Mousumi Pal, Traumatic Ulcerative Granuloma with Stromal Eosinophilia of The Lateral Border of Tongue Mimicking Oral Squamous Cell Carcinoma: A Case Report , International Journal of Medical Science and Dental Health: Vol. 12 No. 07 (2026): Volume 12 Issue 07
Farah Ali Hameed, Noor Sarhan Ahmad , Raheem Saber Shwiehk, Helicobacter Pylori And Gastric Cancer: Microbiological Insights And Clinical Implications , International Journal of Medical Science and Dental Health: Vol. 10 No. 10 (2024): Volume 10 Issue 10
Russell Issam AL-Daher, Genetic Basis of Virulence Factors in Vibrio Cholerae: A Review , International Journal of Medical Science and Dental Health: Vol. 11 No. 10 (2025): Volume 11 Issue 10
SÎRBU ION, HISTORICAL ASPECTS OF PECTUS EXCAVATUM , International Journal of Medical Science and Dental Health: Vol. 11 No. 02 (2025): Volume 11 Issue 02
Russell Issam AL-Daher, Genetic Characteristics of Toxigenic Clostridium Species: A Review , International Journal of Medical Science and Dental Health: Vol. 11 No. 10 (2025): Volume 11 Issue 10
Chijioke Ogomegbunam Ezeigwe, George Uchenna Eleje, Uchenna Paschaline Eze, Gerald Tochukwu Igwemadu, Emmanuel Onyebuchi Ugwu, Emmanuel Chukwubuikem Egwuatu, Chigozie Geoffrey Okafor, Chukwuemeka Chukwubuikem Okoro, Chukwudubem Chinagorom Onyejiaka, Obinna Kenneth Nnabuchi, Princeston Chukwuemeka Okam, Adanna Vivian Egwim, Charlotte Blanche Oguejiofor, Malarchy Ekwunife Nwankwo, Chukwunwendu Aloysius Okeke, Chisom God’swill Chigbo, Gerald Okanandu Udigwe, Joseph Ifeanyichukwu Ikechebelu, Akaninyene Eseme Ubom, Kingsley Chidiebere Nwaogu, Ahizechukwu Chigoziem Eke, Placenta Accreta Spectrum: A Narrative Review of Clinical Management, Contemporary Innovations, And Global Challenges , International Journal of Medical Science and Dental Health: Vol. 12 No. 07 (2026): Volume 12 Issue 07

Previous 81-90 of 118 Next

You may also start an advanced similarity search for this article.