Thanatophoric dysplasia type 1 with tectal plate dysplasia and aqueductal stenosis

  • Ai Peng TanEmail author
  • Gema Priego
Case Report



Skeletal dysplasias are a heterogeneous group of disorders comprising of more than 300 entities, many of which manifest in the prenatal period, emphasizing the importance of accurate prenatal diagnosis. Detection of a lethal skeletal dysplasia via prenatal ultrasound is often straightforward. However, establishing the specific diagnosis and detailed evaluation of intracranial anomalies are often challenging. Fetal magnetic resonance imaging (MRI) is superior to ultrasound in the detection of abnormal sulcation pattern, corpus callosal agenesis, and posterior fossa anomalies. Hence, it has the potential of delineating neuroimaging features that may not be fully elucidated by ultrasound. The objective of this article is to describe an unusual case of thanatophoric dysplasia (TD) with dysplastic tectal plate and resultant aqueductal stenosis diagnosed on fetal MRI. To the best of our knowledge, this has never been reported before in the literature. A comprehensive review of literature pertaining to TD-associated CNS abnormalities will also be included.


Our reported case adds to the current limited knowledge of this rare entity and emphasizes the crucial role of fetal MRI in expanding the neuroimaging phenotypes of TD


Thanatophoric dysplasia Tectal plate dysplasia Aqueductal stenosis 


Compliance with ethical standards

Conflict of interest



  1. 1.
    Wilcox WR, Tavormina PL, Krakow D, Kitoh H, Lachman RS, Wasmuth JJ, Thompson LM, Rimoin DL (1998) Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. Am J Med Genet 78:274–281.<274::AID-AJMG14>3.0.CO;2-C CrossRefGoogle Scholar
  2. 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. CrossRefGoogle Scholar
  3. 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. CrossRefGoogle Scholar
  4. 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. CrossRefGoogle Scholar
  5. 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.<835::AID-PD903>3.0.CO;2-N CrossRefGoogle Scholar
  6. 6.
    Chen CP, Chern SR, Shih JC, Wang W, Yeh LF, Chang TY, Tzen CY (2001) Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia. Prenat Diagn 21:89–95.<89::AID-PD21>3.0.CO;2-9 CrossRefGoogle Scholar
  7. 7.
    Tonni G, Azzoni D, Ventura A, Ferrari B, Felice CD, Baldi M (2010) Thanatophoric dysplasia type I associated with increased nuchal translucency in the first trimester: early prenatal diagnosis using combined ultrasonography and molecular biology. Fetal Pediatr Pathol 29:314–322. CrossRefGoogle Scholar
  8. 8.
    Khalil A, Pajkrt E, Chitty LS (2011) Early prenatal diagnosis of skeletal anomalies. Prenat Diagn 31:115–124. CrossRefGoogle Scholar
  9. 9.
    Wang DC, Shannon P, Toi A, Chitayat D, Mohan U, Barkova E, Keating S, Tomlinson G, Glanc P (2014) Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia. Ultrasound Obstet Gynecol 44:588–594. CrossRefGoogle Scholar
  10. 10.
    Coulter CL, Leech RW, Brumback RA, Schaefer GB (1991) Cerebral abnormalities in thanatophoric dysplasia. Childs Nerv Syst 7:21–26CrossRefGoogle Scholar
  11. 11.
    Itoh K, Pooh R, Kanemura Y, Yamasaki M, Fushiki S (2013) Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I. Neuropathology 33:663–666. CrossRefGoogle Scholar
  12. 12.
    Hevner RF (2005) The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis. Acta Neuropathol 110:208–221. CrossRefGoogle Scholar
  13. 13.
    Kalache KD, Lehmann K, Chaoui R, Kivelitz DE, Mundlos S, Bollmann R (2002) Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2. Prenat Diagn 22:404–407. CrossRefGoogle Scholar
  14. 14.
    Passos-Bueno MR, Wilcox WR, Jabs EW, Sertié AL, Alonso LG et al (1999) Clinical spectrum of fibroblast growth factor receptor mutations. Hum Mutat 14:115–125.<115::AID-HUMU3>3.0.CO;2-2 CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Diagnostic ImagingNational University Health SystemSingaporeSingapore
  2. 2.Department of RadiologyQueen’s HospitalRomfordUK

Personalised recommendations