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.