A case of recurrent thanatophoric dwarfism

Authors

  • L. Thulasi Devi Department of Obstetrics and Gynecology, Military Hospital, Thiruvananthapuram, Kerala, India http://orcid.org/0000-0002-4607-7797
  • Athul R. S. Department of Obstetrics and Gynecology, Military Hospital, Thiruvananthapuram, Kerala, India

DOI:

https://doi.org/10.18203/2320-1770.ijrcog20211547

Keywords:

Congenital malformation, Lethal, Medical genetics, Thanatophoric dwarfism

Abstract

An interesting case of Recurrent Thanatophoric Dwarfism in a Multigravida; reporting to this hospital in second trimester which was terminated. It was confirmed on anomalies scan and was lethal. Genetic testing of the couple was advised; however, they refused and were lost to follow up. Long-term survivors are rare and require aggressive intervention for complications. In such cases couple should be informed of prognosis and extensively counselled for termination based on complications in long-term survivors as reported in literature. Management should be done after counselling and consultation regarding complications, clinical course, and prognosis of the condition. Due considerations may be given based on the parent’s desire for extreme life-support measures based on availability and affordability for provision of comfort care for the newborn. End of Life Support issues should be considered based on prevailing laws governing the nation.

Author Biography

L. Thulasi Devi, Department of Obstetrics and Gynecology, Military Hospital, Thiruvananthapuram, Kerala, India

HOD, DEPTT OF OBSTETRICS AND GYNAECOLOGY

References

Norman AM, Rimmer S, Landy S, Donnai D. Thanatophoric dysplasia of the straight-bone type (type 2). Clin Dysmorphol. 1992;1(2):115-20.

Langer LO Jr, Yang SS, Hall JG, Sommer A, Kottamasu SR, Golabi M, Krassikoff N. Thanatophoric dysplasia and cloverleaf skull. Am J Med Genet Suppl. 1987;3:167-79.

Maroteaux, P., Lamy, M. Le diagnostic des nanismes chondro-dystrophiques chez les nouveau-nes. Arch. Franc. Pediat. 1968;25:241-62.

Maroteaux P, Lamy M, Robert JM. Thanatophoric dwarfism. Presse Med. 1967 Nov 22;75(49):2519-24.

.Maygrier, C Imaging of the Placenta: A Multimodality Pictorial Review. Bull. Soc. Obstet. Gynec.1898;1:248-55.

Keats TE, Riddervold HO, Michaelis LL. Thanatophoric dwarfism. Am J Roentgenol Radium Ther Nucl Med. 1970;108(3):473-80.

Schild RL, Hunt GH, Moore J, Davies H, Horwell DH. Antenatal sonographic diagnosis of thanatophoric dysplasia: a report of three cases and a review of the literature with special emphasis on the differential diagnosis. Ultrasound Obstet Gynecol. 1996;8(1):62-7.

Sawai H, Komori S, Ida A, Henmi T, Bessho T, Koyama K. Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results. Prenat Diagn. 1999;19(1):21-4.

Pannier S, Martinovic J, Heuertz S, Delezoide AL, Munnich A, Schibler L, et al. Thanatophoric dysplasia caused by double missense FGFR3 mutations. Am J Med Genet A. 2009;149A(6):1296-301.

Hersh JH, Yen FF, Peiper SC, Barch MJ, Yacoub OA, Voss DH, et al. De novo balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene. J Med Genet. 1995;32(4):293-5.

Khalil A, Pajkrt E, Chitty LS. Early prenatal diagnosis of skeletal anomalies. Prenat Diagn. 2011;31(1):115-24.

Wilcox WR, Tavormina PL, Krakow D, Kitoh H, Lachman RS, Wasmuth JJ, et al. Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. Am J Med Genet. 1998;78(3):274-81.

Delezoide AL, Lasselin-Benoist C, Legeai-Mallet L, Brice P, Senée V, Yayon A, Munnich A, et al. Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses. Hum Mol Genet. 1997;6(11):1899-06.

Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, et al. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.

Downloads

Published

2021-04-23

Issue

Section

Case Reports