Thanatophoric dysplasia in nonadherent to antenatal care in low middle income country: a rare case reports

Abstract

Introduction and importance: Thanatophoric dysplasia is a rare, fatal, and sporadic form of skeletal dysplasia caused by a mutation in fibroblast receptor fibroblast growth factor receptor 3 (FGFR3). It is characterized by a conical thorax, platyspondyly (flat vertebral bodies), and macrocephaly. This disorder can be diagnosed antenatally as early as 13 weeks of gestation. Case presentation: The authors reported a case of a 19-year-old young consanguineous female in her second trimester of pregnancy following termination of pregnancy. Ultrasound examination showed a clover leaf-shaped skull, a widened anterior fontanel, a coarse and edematous face, a flattened nasal bridge, a short neck, a low set of ears, shortening of both upper and lower limbs with short fingers, bowed thighs and legs, and a relatively narrow thorax. A fetus with micromelia, thoracic dysplasia type 2 was detected on ultrasonography. Clinical discussion: Lung hypoplasia, polyhydramnios, and hydrops in affected individuals lead to a poor prognosis. Hence, timely intervention should be done to avoid a poor prognosis. However, a mix of sonographic, genetic, histological, and autopsy studies are applied to make the most accurate diagnosis. Conclusion: The authors reported this case due to the rarity of this condition and the need for a systematic and multidisciplinary approach.