Thanatophoric dysplasia type 1 with tectal plate dysplasia and aqueductal stenosis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s00381-018-04035-6.pdf
Reference14 articles.
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2. De Biasio P, Ichim IB, Scarso E, Baldi M, Barban A et al (2005) Thanatophoric dysplasia type I presenting with increased nuchal translucency in the first trimester. Prenat Diagn 25:426–428. https://doi.org/10.1002/pd.937
3. Ferreira A, Matias A, Brandão O, Montenegro N (2004) Nuchal translucency and ductus venosus blood flow as early sonographic markers of thanatophoric dysplasia. A case report. Fetal Diagn Ther 19:241–245. https://doi.org/10.1159/000076705.
4. Martínez-Frías ML, Egüés X, Puras A, Hualde J, de Frutos CA, Bermejo E, Nieto MA, Martínez S (2011) Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: insights into its pathogenesis. Am J Med Genet A 155A:197–202. https://doi.org/10.1002/ajmg.a.33765.
5. De Biasio P, Prefumo F, Baffico M, Baldi M, Priolo M et al (2000) Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation. Prenat Diagn 20:835–837. https://doi.org/10.1002/1097-0223(200010)20:10<835::AID-PD903>3.0.CO;2-N
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2. Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor;Palliative Medicine Reports;2020-04-01
3. Metatropic Dysplasia: A Description of a Newborn With Suspected Epiphyseal Dysplasia;Journal of Endocrinology and Metabolism;2019
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