Download PDF
CC BY-NC-ND 4.0 · J Lab Physicians 2014; 6(02): 121-123
DOI: 10.4103/0974-2727.141513
Case Report

Thanatophoric Dysplasia Type I: A Rare Case Report at Fetal Autopsy

Reshma S Davanageri
Department of Pathology, J.N. Medical College, Belgaum, Karnataka, India
,
Parul D Shokeen
Department of Pathology, J.N. Medical College, Belgaum, Karnataka, India
,
Hema B Bannur
Department of Pathology, J.N. Medical College, Belgaum, Karnataka, India
,
Kamal P Patil
Department of Obstetrics and Gynaecology, J.N. Medical College, Belgaum, Karnataka, India
› Author Affiliations Source of Support: Nil
› Further Information
  PDF Download Permissions and Reprints

ABSTRACT

Thanatophoric dysplasia type 1 is a lethal congenital anomaly with skeletal dysplasia. It is characterized by short limb dwarfism, enlarged head with frontal bossing, short neck, protuberant abdomen. It is detected in early gestational period by ultrasonography. The other associated anatomical abnormalities and characteristic laboratory findings aid in the early diagnosis and further work-up.

Keywords

Fetal autopsy - short limb - thanatophoric dysplasia


Publication History

Article published online:
19 April 2020

© 2014.

Thieme Medical and Scientific Publishers Private Ltd.
A-12, Second Floor, Sector -2, NOIDA -201301, India

 

  • REFERENCES

  • 1 Enid GB. Skeletal system. In: Enid GB, editor. Potter′s Pathology of the Foetus, Infant and Child. 2nd ed. Philadelphia: Mosby Elsevier; 2007.
  • 2 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;21:23-39.
  • 3 Naveen NS, Murlimanju BV, Kumar V, Pulakunta T, Jeeyar H. Thanatophoric dysplasia: A rare entity. Oman Med J 2011;26:196-7.
  • 4 Baker KM, Olson DS, Harding CO, Pauli RM. Long-term survival in typical thanatophoric dysplasia type 1. Am J Med Genet 1997;70:427-36.
  • 5 Fink IJ, Filly RA, Callen PW, Fiske CC. Sonographic diagnosis of thanatophoric dwarfism in utero. J Ultrasound Med 1982;1:337-9.
  • 6 Miller E, Blaser S, Shannon P, Widjaja E. Brain and bone abnormalities of thanatophoric dwarfism. AJR Am J Roentgenol 2009;192:48-51.