Thanatophoric Dysplasia

Vaulinne Basyir, Yusrawati Yusrawati, Gistin Husnul Khatimah


Background: The term tanatophorik comes from the Greek word thanatophorus which means "innate death" or "bearing death". The problem that underlies this disease is the process of bone formation. This disease is associated with an autosomal dominant inherited mutation of the fibroblast growth factor 3 receptor (FGFR3) gene on the arm of chromosome 4 (4p16.3). Because FGFR3 is the main modulator in bone formation, the typical clinical features of this disease include shortening of the extremities, curved femur, clover-like skull and narrowing of the thoracic cavity.Tanatophoric dysplasia is a skeletal disorder that is "lethal" or deadly. The deaths occurred due to respiratory failure caused by reduced chest cavity capacity, hypoplastic lungs and / or brainstem compression.

Destination: Reported a case of thanatophoric dysplasia

Method: Case Report

Case Report: Case 33 years old woman, with preterm parturient G1P0A0H0 35-36 weeks 1 latent phase + history of 2x laparotomy + suspected fetal tanatophoric dysplasia. On ultrasound examination, it was found that BPD = 9.14 cm; AC = 30.56 cm; HC = 32.05 cm; FL = 2.55 cm; AFI; 9.06cm; SDAU = 1.72 cm. The presence of frontal bosing, saddle nose and micromilia (proximal, distal, phalanges) was found. The patient was planned for vaginal delivery and the progress of labor was followed. Patients provided informed consent regarding the possibility of fetal death during labor and after birth. During the active phase of the labor process, hypotony uterine innersia occurs and oxytocin drip is performed to accelerate labor. The baby was born male, weight 2175 grams, body length 34 cm and A / S: 1/0. Postmortem physical examination revealed macroscopic findings of tanatophoric dysplasia infants such as hypertelorism, low nasal bridge, cranio-facial disproportion. Narrow chest with protruding abdomen and short, bent limbs.

Conclusion: Tanatophoric dysplasia is "lethal" skeletal dysplasia. Careful prenatal examination is required in diagnosis and termination of pregnancy.

Keywords: Thanatophoric dysplasia, prenatal diagnosis

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Dighe M, Fligner C, Cheng E, et al. 2008. Fetal Skeletal Dysplasia: An Approach to Diagnosis with Illustrative Case. RadioGraphics. 28 (4): 1061-76.

Naveen NS, Murlimanju BV, Kumar V, Pulakunta T. 2011. Thanatophoric dysplasia: a rare entity. Oman Med J. 26 (3): 196-7.

Jung M, Park SH. 2017. Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutations. Exp Mol Pathol. 102 (2): 290-5.

Chen SW, Chen CP, Wang, LK, et al. 2017. Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T> G (p.Ter807Gly) (X807G) mutation in FGFR3. Taiwanese Journal of Obstetrics and Gynecology. 56: 87-92.

Nikkel SM, Major N, King WJ. 2013. Growth and development in thanatophoric dysplasia - an update 25 years later. Clin Case Rep. 1 (2): 75-8.

Chen CP, Chang TY, Lin TW, et al. 2018. Prenatal Diagnosis of Hydrancephaly and Enlarged Cerebellum and Cisterna magna in a Fetus with Thanatophoric Dysplasia Type II and A Review of Prenatal Diagnosis of Brain Anomalies Associated with Thanatophoric Dysplasia. Taiwanese Journal of Obstetrics and Gynecology. 57: 119-22.

Miler E, Blaser S, Shannon P, Widjaja E. 2009. Brain and Bone Abnormalities of Thanatophoric Dwarfism. Neuroradiology / Head and Neck Imaging. AJR: 192.

Wang L, Takai Y, Baba K, et al. 2017. Can biparietal diameter-to-femur length ratio be a useful sonographic marker for screening than atophoric dysplasia since the first trimester? A literature review of case reports and a retrospective study based on 10,293 routine fetal biometry measurements. Taiwan J Obstet Gynecol. 56 (3): 374-8.

Oliveira CIF, Fett-Conte AC. Birth defects: Risk factors and consequences. Journal of Pediatric Genetics. 2013; 2 (2): 85-90.

López ‐ Camelo JS, Castilla EE, Orioli IM. Folic acid flour fortification: impact on the frequencies of 52 congenital anomaly types in three South American countries. American Journal of Medical Genetics Part A.2010; 152 (10): 2444-58.

Shum L, Nuckolls G. The life cycle of chondrocytes in the developing skeleton. Arthritis Research & Therapy. 2001; 4 (2): 1

Jeanty P, Valero G. The assessment of the fetus with a skeletal dysplasia.

Teven CM, Farina EM, Rivas J, Reid RR. Fibroblast growth factor (FGF) is signaling in development and skeletal diseases. Genes & Diseases. 2014; 1 (2): 199-213.

Dighe M, Fligner C, Cheng E, Warren B, Dubinsky T. Fetal Skeletal Dysplasia: An Approach to Diagnosis with Illustrative Cases 1. Radiographics. 2008; 28 (4): 1061-77.

Karczeski B, Cutting GR. Thanatophoric dysplasia. 2013.

Chitty LS, Khalil A, Barrett AN, Pajkrt E, Griffin DR, Cole TJ. Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenatal diagnosis. 2013; 33 (5): 416-23.

Krakow D, Lachman RS, Rimoin DL. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genetics IN Medicine. 2009; 11 (2): 127-33.



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