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      Prenatal Diagnosis of Arthrogryposis as a Phenotype of Pena-Shokeir Syndrome using Two- and Three-dimensional Ultrasonography

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          Abstract

          Pena-Shokeir syndrome is a rare autosomal recessive disease, characterized by facial anomalies, arthrogryposis, polyhydramnios, fetal growth restriction, and pulmonary hypoplasia. This report describes the findings of this anomaly with two and three-dimensional ultrasound in a female in her 28 th week of pregnancy, who was referred to us because the fetus presented arthrogryposis of unknown cause. These imaging methods allowed adequate evaluation of the fetal malformations and also enabled appropriate counseling of the couple.

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          Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review.

          Chih-Ping Chen (2012)
          Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of arthrogryposis, fetal akinesia, intrauterine growth restriction, developmental abnormalities such as cystic hygroma, pulmonary hypoplasia, cleft palate, cryptorchidism, cardiac defects and intestinal malrotation, and occasional pterygia of the limbs. Multiple pterygium syndrome is a clinically and genetically heterogeneous disorder characterized by pterygia of the neck, elbows and/or knees, arthrogryposis, and other phenotypic features such as short stature, genital abnormalities, craniofacial abnormalities, clubfoot, kyphoscoliosis, and cardiac abnormalities. Fetal akinesia deformation sequence may phenotypically overlap with the lethal type of multiple pterygium syndrome. This article provides a comprehensive review of prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders. Prenatal diagnosis of fetal akinesia along with cystic hygroma, increased nuchal translucency, nuchal edema, hydrops fetalis, arthrogryposis, pterygia, and other structural abnormalities should include a differential diagnosis of neuromuscular junction disorders. Genetic analysis of mutations in the neuromuscular junction genes such as CHRNA1, CHRND, CHRNG, CNTN1, DOK7, RAPSN, and SYNE1 may unveil the pathogenetic cause of fetal akinesia deformation sequence and multiple pterygium syndrome, and the information acquired is helpful for genetic counseling and clinical management. Copyright © 2012. Published by Elsevier B.V.
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            Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition.

            S D Pena, M. H. K. Shokeir (1974)
            Article 0 comments Cited 12 times – based on 0 reviews     Review now
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              Arthrogryposis and fetal hypomobility syndrome.

              Goknur Haliloglu, Haluk Topaloglu (2013)
              Arthrogryposis is a heterogeneous condition, evident from birth, which can be defined as multiple contractures of the joints. The etiology is multifold: genetic disorders of the central or peripheral nervous system, or of the connective tissue leading to decreased fetal movements, and vascular and environmental causes. The problem begins in utero. There may be overlapping conditions between sporadic, syndromic, neurogenic, myopathic and metabolic types. The workup should include a family tree. Systemic involvement, for example of the renal and pulmonary systems, may be encountered in associated syndromes. Motor neuron disorders leading to the condition are the most commonly seen type. Fetal or neonatal akinesia/hypokinesia is at the severe end of the spectrum, in which there is literally intrauterine limitation of movement. Children with amyplasia are born with little or diminished muscle bulk of the extremities. Distal arthrogryposis is almost always a dominantly inherited condition. A multidisciplinary care approach is required in order to provide optimum healthcare. The management team should include a nutritionist and a physiotherapist. Genetic counseling is possible in most instances. A truly genetic cause can be identified in more than 50% of cases. Survivors, though handicapped, can lead near normal lives.
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                Author and article information

                Journal
                Journal ID (nlm-ta): J Clin Imaging Sci
                Journal ID (iso-abbrev): J Clin Imaging Sci
                Journal ID (publisher-id): JCIS
                Title: Journal of Clinical Imaging Science
                Publisher: Medknow Publications & Media Pvt Ltd (India )
                ISSN (Print): 2156-7514
                ISSN (Electronic): 2156-5597
                Publication date Collection: 2014
                Publication date (Electronic): 29 April 2014
                Volume: 4
                Electronic Location Identifier: 20
                Affiliations
                [1]Department of Obstetrics, Federal University of Sāo Paulo, Sāo Paulo-SP, Brazil
                Author notes
                Address for correspondence: Prof. Edward Araujo Júnior, Department of Obstetrics, Federal University of Sāo Paulo, Rua Carlos Weber, 956, apto. 113 Visage, Vila Leopoldina, Sāo Paulo - SP, CEP 05303-000, Brazil. E-mail: araujojred@ 123456terra.com.br
                Article
                Publisher ID: JCIS-4-20
                DOI: 10.4103/2156-7514.131642
                PMC ID: 4060403
                SO-VID: 69552a3b-df79-4824-81af-b7855fbbe7c4
                Copyright © Copyright: © 2014 Santana EFM
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

                History
                Date received : 30 January 2014
                Date accepted : 30 March 2014
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Radiology & Imaging
                Keywords: arthogriposis,pena-shokeir syndrome,prenatal diagnosis,three-dimensional ultrasound,two-dimensional ultrasound
                Data availability:
                ScienceOpen disciplines: Radiology & Imaging
                Keywords: arthogriposis, pena-shokeir syndrome, prenatal diagnosis, three-dimensional ultrasound, two-dimensional ultrasound

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