Discussion
Fetal development akinesia deformity sequence, known as the Pena–Shokeir Syndrome (PSS), is characterized by early-onset neurogenic arthrogryposis and hypoplastic lungs [8]. Several studies have suggested that this syndrome is caused by mutations in the RAPSN and DOK7 genes [9]. Many risk factors contribute to developing this disorder, including positive family history, environmental conditions like trauma, and hypotension [10]. Despite various possible diagnoses, PSS is related to chromosome 18 trisomies such as arthrogryposis and micrognathia [11]. It is possible to diagnose PSS in the case of a normal chromosomal study, micrognathia, and arthrogryposis in the child [10]. The inclusion of multi ultrasound in rendering mode enables a more thorough assessment of each suspected embryonic anomaly, completing the two-dimensional approach [12]. Current molecular genetic studies have increased our understanding of the hereditary reasons for this syndrome, indicating that many patients are at the extreme end of other identified neuromuscular diseases [13]. Despite pulmonary hypoplasia being crucial for conclusively defining PSS, this finding is often seen in the latter stage of fetal akinesia [14]. Magnetic resonance imaging (MRI) is another imaging technique for determining the presence of PSS. MRI should be requested even if it is not necessary to diagnose PSS when there is a suspicion of prenatal central nervous system defects. By comparing our case to other reported examples in the literature, we found Sumaiya Adam et al., [15], A young pregnant woman who had a standard ultrasound scan at 24 weeks of pregnancy. The routine second-trimester ultrasonography was performed and showed fetal micrognathia, a missing septum pellucidum, significant hyper-lordosis, and decreased fetal movements. PSS was diagnosed based on prenatal ultrasound, MRI results, and normal fetal chromosomes. The presence of pulmonary hypoplasia revealed in postnatal ultrasonography with a lower ratio of the fetal lung to head circumference (LHR) = 0.62 corroborated the final diagnosis of PSS. According to Eduardo Santana et al. [11], Another young nulliparous woman in her second pregnancy was hospitalized in the 28th week due to possible fetal arthrogryposis. The 2D ultrasonography revealed chronic spine hyperextension with head extension, persistent arm and leg flexion, hands and feet twisting, evidence of pulmonary hypoplasia, and retrognathia. The fetal position included continuous bending of the upper and lower limbs, hands and feet twisting, and more details of the micrognathia. A peri-membranous interventricular septal defect associated with intermittent fetal bradycardia was observed during the fetal echocardiography examination.
The cesarean birth went off without a hitch. The female infant weighed 1050 g and got APGAR scores of 0/0 in the 1st and 5th minutes. Unfortunately, the infant died after extensive resuscitation efforts. Because of the poor prognosis of PSS, in some countries where it is legal or socially-religiously unaccepted, late pregnancy termination may be offered as a therapy option. Instead, the parents might choose complete resuscitative action post-delivery or comfort treatment after birth. Unfortunately, not all patients will have a prenatal diagnosis and making decisions about lifesaving postpartum measures may be challenging. This article showed a rare case that causes severe abnormalities and requires constant follow-up and monitoring to reach the best management.