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

Introduction and importance: Thanatophoric dysplasia is a rare, fatal, and sporadic form of skeletal dysplasia caused by a mutation in 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 thanatophoric dysplasia on USG in a 19 year old young consanguineous female in her second trimester 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. 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.

Accidental gunshot injury with left-sided lung injury and D11 burst fracture: a case report.

Penetrating chest injuries are mainly caused by gunshot trauma and stab injuries. These lead to damage to the vital structures, which requires a multidisciplinary approach for management. Case presentation: We present a case of an accidental gunshot injury (GSI) to the chest resulting in left-sided hemopneumothorax, left lung contusion, and D11 burst fracture with spinal cord injury. The patient underwent thoracotomy to remove the bullet along with instrumentation and fixation of the D11 burst fracture. Clinical discussion: Penetrating trauma to the chest requires prompt resuscitation and stabilization with eventual definitive care. Most GSIs to the chest require chest tube insertion, which helps to create negative pressure in the chest cavity, allowing adequate time for the expansion of the lungs. Conclusion: GSIs to the chest could give rise to life-threatening conditions. However, the patient must be stabilized for at least 48 h before performing any surgical repair to ensure that there are fewer complications following surgery.