Peny-Shokeira band

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Pena and Shokeira syndrome (pseudotrisomia 18, fetal acne biopsy sequence, fetal akinesia deformation sequence, fetal akinesia / hypokinesia sequence, fetal akinesia deformation sequence, Arthrogryposis multiplex congenita with pulmonary atresia) - rare congenital malformations (also known as malformation), characterized by arthrogryposis, dysmorphic facial features and hypoplasia. The common feature of fetuses is decreased motor activity, resulting in multifocal (fetal swallowing), lung hypoplasia (absence of diaphragm and intercostal muscles), shortening of umbilical cord and multiple joint contractures.

Ultrathin, prominent heel, camptodacty, and lack of wrist flexion are also part of the phenotype of the Peny-Shokeira syndrome. The face of a newborn has dysmorphic features: poor mimicry, hyperthermia, telcantis, small back to the anus, microdomain, microgranulation, high palate. Sometimes there is a cleft palate and heart defects. Many children with a prematurity syndrome are born prematurely, and even if they are born with time, their birth weight is low. Neck is short (sometimes finned), and often is a veil. In children who are experiencing perinatal period, short bowel syndrome and malabsorption generally develop.

From the presentation of the first team description in 1974, about one hundred cases have been reported in the literature. About 30% of them were stillborn, and most live births died during the perinatal period due to complications of lung hypoplasia. Etiology of the syndrome is complex. About 50% of cases suggest autosomal recessive inheritance (parentage or sibling syndrome). In some cases, the motherland was diagnosed. It has been shown experimentally that the administration of kurary to pregnant mice results in an animal model of the mouse neonatal syndrome.

In the differentiation of the Peny-Shokeira type I syndrome, the Edwards syndrome (pseudotrisomii 18) should be considered. Similarities include multiple joint contractures, camptodacty and prominent heel. The karyotype study is of paramount importance.

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