Edit concept Question Editor Create issue ticket

Thanatophoric Dysplasia 2

TD


Presentation

  • Angie Duker The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Full-color medical illustrations present key anatomic details in a clear manner. Thousands of digital-quality images depict the complete range of normal and abnormal imaging presentations.[books.google.ro]
  • Synonyms Cloverleaf skull with thanatophoric dwarfism Thanatophoric dysplasia type II Thanatophoric dysplasia with kleeblattschaedel Thanatophoric dysplasia with straight femurs and cloverleaf skull Keywords Disclaimer Any medical or genetic information present[uniprot.org]
Vascular Disease
  • Disease 426 Normal Bronchiole 430 Incidental Pulmonary Nodule Followup by 435 Anatomy and Function of Lung 459 Chest Disorders 468 TNM Staging of Lung Cancer 483 HEART AND GREAT VESSELS 589 Evaluation of Pulmonary Vasculature on Erect Chest Film 595[books.google.com]
Stroke
  • Cranial Nerves 258 Segmental Anatomy of Facial Nerve Intracranially 260 Brain Disorders 266 Differences between Epidermoid and Arachnoid Cyst 272 Glasgow Coma Scale 293 T1 and T2 Signal Changes in Evolution 295 Perfusion CT Analysis of Hyperacute Ischemic Stroke[books.google.com]

Workup

Polyps
  • 704 Semispecific Liver Patterns in Cirrhosis 719 Viral Markers of Hepatitis 738 Intravenous Contrast Strategies for Liver Lesions 745 Balthazar CTSeverity Index for Acute Pancreatitis 757 GASTROINTESTINAL TRACT 769 Differential Diagnosis of Colonic Polyps[books.google.com]

Treatment

  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • These resources address the diagnosis or management of thanatophoric dysplasia and may include treatment providers.[buttonsandbutterflies.com]
  • Each of the 355 disorders profiled provides the history of the condition, its prevalence, causes, treatment (if any), and further reading. Interesting sidebars and compelling photos that help inform content accompany many entries.[books.google.ro]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • Prognosis - Thanatophoric dysplasia- type 2 Not supplied. Treatment - Thanatophoric dysplasia- type 2 Not supplied. Resources - Thanatophoric dysplasia- type 2 Not supplied.[checkorphan.org]
  • An unusual head shape called kleeblattschädel ("cloverleaf skull") can be seen with type 2 thanatophoric dysplasia. [4] Prognosis The term thanatophoric is Greek for "death bearing".[ipfs.io]
  • Prognosis ... Obstetrical tactics ... Pattern of inheritance ...[ibis-birthdefects.org]
  • Prognosis: The condition is lethal due to severe pulmonary hypoplasia. Recurrence: No increased risk.[fetalmedicine.org]
  • […] ribs small scapulae Skull and face relative macrocephaly frontal bossing proptosis nasal bridge flattening kleeblattschaedel (cloverleaf) skull (with type II) 2-4 Spine platyspondyly : flattening of vertebral bodies normal trunk length Treatment and prognosis[radiopaedia.org]

Etiology

  • Etiology TD2 is caused by a single missense mutation (K650E) in the fibroblast growth factor receptor 3 ( FGFR3 ) gene, located to chromosome 4p16.3.[orpha.net]
  • Etiology ... Clinical features ... Associated anomalies ... Diagnosis ... Prenatal diagnosis ... Differential diagnosis ... Prognosis ... Obstetrical tactics ... Pattern of inheritance ...[ibis-birthdefects.org]
  • Etiology Only gold members can continue reading. Log In or Register to continue Dec 21, 2015 Posted by in PEDIATRIC IMAGING Comments Off on 113 Thanatophoric Dysplasia[radiologykey.com]
  • Discussion Thanatophoric Dysplasia is a condition of unknown etiology with the majority of case reports being sporadic. Some authors have reported a dominant gene mutation to be associated with this condition.[jcdr.net]
  • Torrance type PLSD (MIM.151210) (no FGFR3 mutations described) San Diego type PLSD (MIM.270230) (FGFR3 mutations) Glasgow type PLSD (MIM.273680) SADDAN syndrome (severe achondroplasia with developmental delay and acanthosis nigricans) (FGFR3 mutations) Etiology[humpath.com]

Epidemiology

  • Summary Epidemiology The prevalence is unknown but it is less common than TD1 (see this term).[orpha.net]
  • The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations.[books.google.ro]
  • Epidemiology of osteochondrodysplasisa: changing trends due to advances in prenatal diagnosis. Am J Med Genet. 1996;61:49-58. Spranger J. International nomenclature of constitutional bone diseases (the Paris nomenclature).[msjonline.org]
  • Rasmussen SA, Bieber FR, Benacerraf BR, Lachman RS, Rimoin DL, Holmes LB: Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis. Am J Med Genet 1996;61:49–58.[karger.com]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiology of thanatophoric dysplasia is notable. FGFR3 is a part of the tyrosine kinase receptor family. Usually, FGFR3 is a negative regulator of bone growth.[disabled-world.com]
  • […] common genetic form of dwarfism, achondroplasia Shiang, R , Thompson, LM , Zhu, YZ , Church, DM , Fielder, TJ , Bocian, M , Winokur, ST , Wasmuth, JJ Cell 1994 15282208 Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological[reactome.org]
  • Germline mosaicism has not been clearly documented but remains a theoretical possibility. [1, 2] Pathophysiology FGFR3 is part of the tyrosine kinase receptor family. Normally, FGFR3 is a negative regulator of bone growth.[emedicine.medscape.com]
  • Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders Alessandra Mozzi, Diego Forni, Rachele Cagliani, Uberto Pozzoli, Mario Clerici & Manuela Sironi Scientific Reports (2017) Pathophysiological[nature.com]

Prevention

  • […] nervous system abnormalities Temporal lobe dysplasia Enlarged head Hydrocephalus Brain stem hypoplasia Causes - Thanatophoric dysplasia- type 2 Hydrocephalus Swollen brain Elevated intracranial pressure Paget\'s disease of bone Congenital brain disorders Prevention[checkorphan.org]
  • Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive[jamanetwork.com]
  • These mutations can prevent your child’s bones from growing normally. While skeletal dysplasia runs in families, you can potentially pass the condition to your child even if you don’t have a known family history of it.[healthline.com]
  • Conclusion This case is published for its rarity and for highlighting the importance of early booking and anomaly scan ,early booking in this case would have prevented unnecessary mental agony to the mother for bearing a congenitally anomalous child.[pubs.sciepub.com]
  • The longest survival however has been reported to be of 9 years. 11 PREVENTION: Since majority of the cases of TD occur sporadically, parents with only one previously affected fetus the recurrence risk in subsequent pregnancies is low.[jemds.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!