Introduction
Pena-Shokeir Syndrome (PSS) is a deadly condition of numerous congenital contractures [1]. It was first identified in 1974, and the estimated frequency is 1 in 12,000 births [2]. Type 1 has been classified into 2 types; type 2 is described with a fetus’s hypokinesia/akinesia marked by joint contractures, malformations of the face, and undeveloped lungs. PSS Type 2 is a severely degenerative neurological condition that leads to brain atrophy and is characterized by cataracts, intracerebral calcifications, micro-corners, optic atrophy, growth failure, and progressive joint contracture [3]. This syndrome may be difficult to diagnose since it has comparable ultrasonographic characteristics with other disorders [4]. However, as early as 12 weeks of gestation, ultrasonography may detect PSS by analyzing patterns such as hypoplasia of the lung tissue, reduced intrauterine movement, fetal edema, and locked limb posture. Extremities might have been stretched or contracted; the knees are often extended, the elbows are flexed, and the feet may have substantial rocker-bottom or equinovarus deformity. 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. The patient should be informed about the options for palliative care after a second postnatal examination [3]. Although the eventual prognosis of PSS depends on the etiology, this syndrome has been characterized as 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. A congenital cerebral anomaly or severe respiratory failure related to pulmonary hypoplasia are the most common causes of mortality in infants born prematurely [3, 6, 7]. Patients who have previously given birth to a child affected by PSS should have strict fetal monitoring during future pregnancies. This will enable the early detection of any defects that may arise, and the recurrence risk may range from 0% to 25% [2]. We reported the first case of Pena-Shokeir syndrome from Syria; thus, we recommend that clinical physicians be aware of any abnormalities in ultrasonography during pregnancy, which could assist the pregnant woman and the doctor in recognizing the recurrence risk of this syndrome and making the necessary decisions.