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Thanatophoric Dysplasia (Dwarfism, Thanatophoric)

A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.
Also Known As:
Dwarfism, Thanatophoric; Thanatophoric Dwarfism; Thanatophoric Short Stature; Dwarfisms, Thanatophoric; Dysplasia, Thanatophoric; Dysplasias, Thanatophoric; Thanatophoric Dwarfisms; Thanatophoric Dysplasias
Networked: 104 relevant articles (0 outcomes, 5 trials/studies)

Disease Context: Research Results

Related Diseases

1. Achondroplasia
2. Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)
3. Muenke Syndrome
4. Desbuquois syndrome
5. Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)

Experts

1. Legeai-Mallet, Laurence: 7 articles (01/2018 - 10/2002)
2. Benoist-Lasselin, Catherine: 3 articles (01/2018 - 10/2002)
3. Chen, Lin: 3 articles (01/2018 - 09/2012)
4. Xie, Yangli: 3 articles (01/2018 - 09/2012)
5. Munnich, Arnold: 3 articles (06/2009 - 06/2007)
6. Gibbs, Linda: 3 articles (06/2007 - 04/2007)
7. Bonaventure, Jacky: 3 articles (06/2007 - 10/2002)
8. Bober, Michael B: 2 articles (01/2022 - 02/2015)
9. Duker, Angela L: 2 articles (01/2022 - 02/2015)
10. Espiner, Eric A: 2 articles (01/2022 - 02/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Thanatophoric Dysplasia:
1. Type 3 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 3)IBA
2. Messenger RNA (mRNA)IBA
3. Fibroblast Growth Factor 3IBA
4. Proteoglycans (Proteoglycan)IBA
5. Parathyroid Hormone-Related ProteinIBA
6. Fibroblast Growth Factor Receptors (Fibroblast Growth Factor Receptor)IBA
7. Phosphotransferases (Kinase)IBA
8. Fibroblast Growth Factors (Fibroblast Growth Factor)IBA
9. DNA (Deoxyribonucleic Acid)IBA
10. Cysteine (L-Cysteine)FDA Link

Therapies and Procedures

1. Sutures (Suture)
2. Prenatal Care (Care, Prenatal)
3. Decompression
4. Surgical Amputation (Amputations)