Maternal anti-AChR antibody titers were increased in the absence of any clinical symptoms of myasthenia gravis in the mothers. 6Ī possible relation to maternal myasthenia gravis was described in 1994. Maternal illness and drug use, as well as fetal ischemia, have also been described in isolated cases. The earlier the effect, the more severe the phenotype. 7 Environmental causes include antibodies to neurotransmitters and fetal acetylcholine receptor (AChR), as well as reduced intrauterine space such as that seen in multiple births, oligohydramnios, and uterine abnormalities.
#Rocker bottom feet syndrome skin
7 Other causes include connective tissue abnormalities such as chondrodysplasias, conditions associated with joint limitation and laxity, as well as restricted skin (restrictive dermopathy). 6 Muscle myopathic changes leading to the failure of development of normal mature muscle, including dystrophies and dysplasias, have also been implicated. It includes the brain and spinal cord, motor neuron, neuromuscular junction, and neurotransmitter defects. The underlying etiology is dysfunction of the neuromuscular system resulting in decreased intrauterine fetal movements. 6, 7 X-linked dominant inheritance has also been suggested. This has led to the identification of up to 30 different subgroups. Sporadic and familial occurrences have been described subsequently depending on the underlying etiology. 4, 5 The initial description included multiple consanguineous families, and an autosomal recessive inheritance pattern was suggested. The clinical phenotype initially described by Pena and Shokeir (1974, 1976) included camptodactyly multiple contractures facial anomalies consisting of a high nasal bridge, micrognathia, and a cleft palate and pulmonary hypoplasia resulting in death in utero or shortly thereafter. Arthrogryposis multiplex congenital (AMC), multiple pterygium syndrome (MPS), and lethal congenital contracture syndromes are conditions that have overlapping phenotypes and etiologies. It is also called “fetal akinesia deformation sequence” (FADS). PSS is a heterogeneous group of disorders characterized by a decrease or absence of intrauterine fetal movement.
3įurther discussion in this review will be restricted to PSS type 1. It is a very rare autosomal recessive disorder caused by mutations in ERCC6/ CSB, although mutations in ERCC1, ERCC2, and ERCC5 have been linked to some cases. It is a rapidly progressive neurological disorder resulting in brain atrophy, characterized by intracerebral calcifications, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure. Type 2: It is also known as cerebro-oculo-facio-skeletal (COFS) syndrome. 2 About 100 cases have been described in the literature, with about 30% of fetuses dying in utero, and the vast majority of neonates succumbing in the early neonatal period due to pulmonary hypoplasia. It has a prevalence of <1/1,000,000 births, with an autosomal recessive mode of inheritance. Type 1: It is a fetal akinesia/hypokinesia sequence that is characterized by multiple joint contractures, facial anomalies, and pulmonary hypoplasia. 1 However, heterogeneity makes recurrence risk calculations difficult. Pena–Shokeir syndrome (PSS) is a lethal form of multiple congenital contractures with autosomal recessive inheritance implicated in 50% of cases. Parents of a baby affected with PSS require detailed counseling that includes information on the imprecise recurrence risks and a plan for subsequent pregnancies. In most cases, a diagnosis is only made in the neonatal period. If diagnosed in the antenatal period, a late termination of pregnancy can be considered following ethical discussion (if the law allows).
The poor prognosis of PSS is due to pulmonary hypoplasia, which is an important feature that distinguishes PSS from arthrogryposis multiplex congenital without pulmonary hypoplasia, which has a better prognosis. Ultrasound features are varied and may overlap with those of Trisomy 18. It is characterized by markedly decreased fetal movements, intrauterine growth restriction, joint contractures, short umbilical cord, and features of pulmonary hypoplasia. Pena–Shokeir syndrome (PSS) type 1, also known as fetal akinesia deformation sequence, is a rare genetic syndrome that almost always results in intrauterine or early neonatal death.