Thanatophoric Skeletal Dysplasia Type 2: Diagnostic and Management Dilemmas

Abstract

Objective: To report a rare case of thanatophoric skeletal dysplasia type 2 that we diagnosed during prenatal period; and to provide further review of dilemmas in diagnostic methods and management, based on appropriate literatures and guidelines available. Methods: Case report Case: A 33-year old primigravida women was diagnosed with pre-term pregnancy (24th weeks of gestation) and intra-uterine singleton live fetus with thanatophoric skeletal dysplasia type 2 via ultrasonography. Pregnancy termination via elected caesarean section at 26th weeks of gestation was performed per the patient request after considering the fetus's lethality. A female neonate was born weighing 980 grams with frontal bossing (Head Circumference: 26 cm), lower set of ears, hypertelorism, bilateral exopthalmos, short neck, rhizomelic short extremities, and narrow thorax (Thorax Circumference: 17 cm). The newborn was immediately transferred to NICU for post-natal management and observation. The newborn is in stable condition for the fi rst several hours; nevertheless, signifi cant destabilization occurred afterwards and the newborn deceased approximately 10 hours after birth due to cardiorespiratory failure. No further invasive resuscitative efforts and post-mortem examinations were performed on the parent's request. Conclusion: Thanatophoric dysplasia is primarily diagnosed using ultrasonography, which has a high detection rate for both diagnosis and prognostications. Even though, There has been a dilemma in performing molecular diagnostic testing, prediction of recurrence risk in future pregnancies can be assessed with its use. Although still remains a challenge in ethical and medicolegal grounds; proper management requires holistic considerations of maternal, fetal, and perinatal aspects.