Thanatophoric dysplasia
Última actualización 18 Aug 2020
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Thanatophoric dysplasia is a severe skeletal disorder characterised by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes.
Descripción
Thanatophoric dysplasia is a severe skeletal disorder characterised by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes.
Researchers have described two major forms of thanatophoric dysplasia, type I and type II. Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). Type II thanatophoric dysplasia is characterised by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull.
The term thanatophoric is Greek for "death bearing." Infants with thanatophoric dysplasia are usually stillborn or die shortly after birth from respiratory failure; however, a few affected individuals have survived into childhood with extensive medical help.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Dwarf, thanatophoric
Thanatophoric dwarfism
Thanatophoric short stature
Related patient information and medicines
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Problemas de cadera
For example, a back problem can cause pain in the hip area and hip problems can be felt ... Causes of cadera problems in children Developmental dysplasia of el hip (DDH) A painless condition that can affect newborns, DDH makes the hip joint unstable so that it can dislocate (something that very rarely happens to the hip joint otherwise). It is.
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Crecimiento restringido
Enanismo is a medical or genetic condition which causes people to have restricted growth so that they are shorter than average. Specifically, people with dwarfism grow no higher than 4 ft 10 ins (147 cm). ... It tends to be associated with other problems such as a cleft palate, club feet, chest abnormalities and abnormally shaped ears..
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Bebés prematuros
Premature babies are born too early, before they have fully developed in the womb. They often need extra or intensive medical care and support while their organs continue to develop to a point where they can survive without specialist help. Most premature babies go on to have normal healthy lives, but they are at increased risk of medical and.
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Luxación
Dislocations of the shoulder (in adults) and the elbow (in children) are the most common. This leaflet discusses the most common dislocations and how they are treated. Joints allow bones to move against one another (articulate) to allow us to move our skeletons. Dislocation of artificial hips in the period foll... Developmental dysplasia of the.
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Exámenes físicos de recién nacidos
Checking your baby's skin for birthmarks and rashes, as well as colour and texture. Examination of your baby's hips. This is a test to exclude developmental dysplasia of the hip , which is problem with the way that the hip joint develops. Examination of your baby's scrotum (in boys). All boys have their scrotum examined to determine if the.
Lecturas adicionales y referencias
- Thanatophoric dysplasia; MedlinePlus, National Library of Medicine.
- Cohen MM Jr. Some chondrodysplasias with short limbs: molecular perspectives. Am J Med Genet. 2002 Oct 15;112(3):304-13. doi: 10.1002/ajmg.10780.
- Foldynova-Trantirkova S, Wilcox WR, Krejci P. Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. Hum Mutat. 2012 Jan;33(1):29-41. doi: 10.1002/humu.21636. Epub 2011 Nov 16.
- French T, Savarirayan R. Thanatophoric Dysplasia. 2004 May 21 [updated 2026 Sep 15]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1366/
- Martinez-Frias ML, de Frutos CA, Bermejo E, Nieto MA; ECEMC Working Group. Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A. 2010 Jan;152A(1):245-55. doi: 10.1002/ajmg.a.33188.
- Pannier S, Martinovic J, Heuertz S, Delezoide AL, Munnich A, Schibler L, Serre V, Legeai-Mallet L. Thanatophoric dysplasia caused by double missense FGFR3 mutations. Am J Med Genet A. 2009 Jun;149A(6):1296-301. doi: 10.1002/ajmg.a.32880.
- Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2000 Feb;21(1):23-39. doi: 10.1210/edrv.21.1.0387.
- Waller DK, Correa A, Vo TM, Wang Y, Hobbs C, Langlois PH, Pearson K, Romitti PA, Shaw GM, Hecht JT. The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. Am J Med Genet A. 2008 Sep 15;146A(18):2385-9. doi: 10.1002/ajmg.a.32485.
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