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.