DOI: http://dx.doi.org/10.18203/2320-1770.ijrcog20190319

Thanatophoric dysplasia: a case report

Uruj Jahan, Astha Sharma, Neena Gupta, Shruti Gupta, Fatima Usmani, Ankita Rajput

Abstract


Thanatophoric Dysplasia (TD) is a congenital, sporadic and most lethal skeletal dysplasia caused by new mutation in FGFR3 gene. Authors report such a rare case of a term alive baby with dysmorphic features, born to an unbooked, 40 years old G4P3+0 with non-consanguineous marriage; admitted at 9 months of gestation to present hospital with complain of pain abdomen for 2 days. Patient delivered a term female baby of vaginally which had delayed cry after birth, Admitted in NICU immediately with respiratory distress. The baby looked dysmorphic and suggested TD as most likely diagnosis. The case is being reported for its rarity and for high importance of early booking and anomaly scan. Early diagnosis is important since it provides alternative options of termination of pregnancy when an affected foetus is detected.


Keywords


Dysmorphic features, Non-consanguinous, Thanatophoric dysplasia

Full Text:

PDF

References


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

Noe EJ, Yoo HW, Kim KN, Lee SY. A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene. Korean J Pediatr. 2010;53:1022-5.

Brodie SG, Kitoh H, Lipson M, Sifry‐Platt M, Wilcox WR. Thanatophoric dysplasia type I with syndactyly. Am Medical Genetics. 1998;80(3):260-2.

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 Genetics. 1998;78(3):274-81.

Tirumalasetti N. Case report of Thanatophoric dysplasia: A lethal skeletal dysplasia. J NTR Univ Health Sci. 2013;2:275-7.

Chen CP, Chern SR, Stuh JC, Wang W, Yeh LF, Chang TY, et al. Prenatal diagnosis and genetic analysis of type 1 and 2 Thanatophoric dysplasia. Prenat Diag. 2001;21:89-95.

Phatak SV, Pandit MP, Phatak MS, Kashikar R. Antenatal sonography diagnosis of thanatophoric dysplasia: A case report. Indian J Radiol Imaging. 2004;14(2):161-63.

Naveen NS, Murlimanju BV, Kumar V, Pulakunta T. Thanatophoric dysplasia: a rare entity. Oman Med J. 2011;26(3):196.

Lingappa HA, Karra S, Aditya A, Batra N, Chamarthy NP, Ravi Chander KWD. Autopsy diagnosis of thanatophoric dysplasia. J Indian Acad Forensic Med. 2013;35(3):296–98.

Davanageri RS, Shokeen PD, Bannur HB, Patil KP. Thanatophoric dysplasia type I: A rare case report at fetal autopsy. J Lab Physic. 2014;6(2):121.

Gopal G, Belavadi GB. Thanatophoric Dysplasia in newborn. J Evolution Med Dental Scienc. 2014;3(14):3665-9.

Kocherla K, Kocherla V. Antenatal diagnosis of thanatophoric dysplasia: a case report and review of literature. Int J Res Med Sci. 2014;2:1176-9.

Sharma D, Sharma CM. Thanatophoric dysplasia type 1 (TD1): a case report. Int J Reprod Contracept Obstet Gynecol. 2014;3:1127-9.

Hegade VP, Nagendra K, Pradeep N, Rudrappa S. Thanatophoric dwarfism. Int J Contemp Pediatr. 2015;2:238-42.

Maratad DM, Kuntoji NG. Thanatophoric Dysplasia-A case report. Medica Innovatica. 2016;5(2):4.

Durga R, Devi RTK. A rare case of thanatophoric dysplasia. Am J Med Case Reports. 2016;4(1):35-7.

Yuvaraj MF, Sankaran PK, Raghunath G, Begum Z, Kumaresan KM. Thanatophoric dysplasia; a rare case report on a congenital anomaly. Int J Pediatr. 2017;5(1):4227-31.