Antenatal ultrasonography findings and magnetic resonance imaging in a case of Pena–Shokeir phenotype

Abstract

Pena-Shokeir phenotype is a lethal anomaly characterized by neurogenic arthrogryposis, craniofacial anomalies, and pulmonary hypoplasia. This syndrome should be distinguished from trisomy 18 and arthrogryposis multiplex congenita for better counseling and establishing fetal prognosis. We present the case of a pregnant woman diagnosed with a Pena-Shokeir phenotype affected fetus at 24 weeks of gestation. Prenatal ultrasonography and fetal magnetic resonance imaging detected persistent hyperextension of the lumbar spine, micrognathia, absent septum pellucidum, and all characteristic features of Pena-Shokeir phenotype. Karyotyping was performed to exclude fetal chromosomal anomalies. Antenatal ultrasonography is an essential tool in the diagnosis of Pena-Shokeir phenotype while fetal magnetic resonance imaging is necessary to identify any associated anomalies of central nervous system.

Pena–Shokeir syndrome's first case report from Syria

“…Fetal 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 a case reported by Adam et al 5 for a young pregnant woman who had a standard ultrasound scan at 24 weeks of pregnancy. The routine second‐trimester ultrasonography showed fetal micrognathia, a missing septum pellucidum, significant hyper‐lordosis, and decreased fetal movements.…”

“…Hypertelorism, a sunken nose tip, micrognathia, and low‐set ears are among the facial traits. 3 , 5 Although the eventual prognosis of PSS depends on the etiology, this syndrome has been nearly consistently fatal. Thirty percent of the fetuses affected by PSS are stillborn, and live‐born infants often die after about a month of their lives.…”

“…Extremities might have been stretched or contracted; the knees are often extended, the elbows are flexed, and the feet may have a substantial rocker‐bottom or equinovarus deformity. Hypertelorism, a sunken nose tip, micrognathia, and low‐set ears are among the facial traits 3,5 . Although the eventual prognosis of PSS depends on the etiology, this syndrome has been nearly consistently fatal.…”

Pena-Shokeir syndrome: current management strategies and palliative care

“… 6 Three-dimensional ultrasound and fetal magnetic resonance imaging (MRI) may be considered as an adjunct to fetal imaging. 64 …”

Pena-Shokeir Syndrome's first case report from Syria

“…Hypertelorism, a sunken nose tip, micrognathia, and low-set ears are among the facial traits. The most common facial traits are hypertelorism, low-set ears, a depressed tip of the nose, micrognathia, and the head is often regarded as abnormally big compared to the body [3,5]. Although cesarean delivery is normally reserved for obstetric reasons, the obstetric treatment will usually continue to be supportive, and a neonatologist and geneticist will assess the newborn after they are born.…”