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Arthrogryposis Multiplex Congenital: Case Report

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Radhouane Achour at maternity and neonatalogy center tunis-TUNISA
Radhouane Achour
  • maternity and neonatalogy center tunis-TUNISA
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Arthrogryposis is a syndrome that can be, seen in different diseases that have in common the existence of multiple joint stiffness. Once the diagnosis poses, the prognosis will depend on the severity of the clinical presentation and its precocity of installation. Management depends on the etiology, which makes the treatment different from one case to another. In cases of suspected Arthrogryposis, practitioners should have attention to amniotic fluid quantity, fetal motricity, swallowing movements and research an amyotrophy or abnormalities of the extremities. We report a particular case of antenatal diagnosis of Arthrogryposis with excess amniotic fluid.
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Arthrogryposis Multiplex Congenital: Case Report
Radhouane Achour1*, Sarra Amari1, Nadia Ben Jamaa2, Imen Ksibi3, Samia Kacem3 and Khaled Neji1
1Emergency Department of Maternity and Neonatology Center, Faculty of Medicine of Tunis, El Manar University of Tunis, Tunisia
2Foetopathology Department of Maternity and Neonatology Center, Faculty of Medicine of Tunis, El Manar University of Tunis, Tunisia
3Neonatology Department of Maternity and Neonatology Center, Faculty of Medicine of Tunis, El Manar University of Tunis, Tunisia
*Corresponding author: Achour Radhouane, Emergency Department of Maternity and Neonatology Center, Faculty of Medicine of Tunis, El Manar University of Tunis,
Tunisia, Tel: +21698549398; E-mail: radhouane.a@live.com
Received date: January 20, 2017; Accepted date: February 09, 2017; Published date: February 11, 2017
Copyright: © 2017 Achour R, et al. 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.
Abstract
Arthrogryposis is a syndrome that can be, seen in different diseases that have in common the existence of
multiple joint stiffness. Once the diagnosis poses, the prognosis will depend on the severity of the clinical
presentation and its precocity of installation.
Management depends on the etiology, which makes the treatment different from one case to another.
In cases of suspected Arthrogryposis, practitioners should have attention to amniotic fluid quantity, fetal motricity,
swallowing movements and research an amyotrophy or abnormalities of the extremities.
We report a particular case of antenatal diagnosis of Arthrogryposis with excess amniotic fluid.
Keywords: Arthrogryposis; Fetal
Introduction
Fetal movements in the amniotic uid are a necessary condition for
adequate fetal growth.
e absence or limitation of these movements can cause severe
functional or morphological abnormalities for the fetus.
Myopathy, neuropathy, restrictive dermopathy, limited movement
due to malformative pathology of the uterus or teratogenic treatment
are generally the etiologies of fetal akinesia.
e following is a case of arthrogryposis recently diagnosed in our
department.
Case Report
A 35 year old woman; gravida 1; para 1 with no past medical
history. She is referred at 28 weeks for gestational diabetes, her main
complaint being very restricted fetal movement.
During pregnancy, a triple test was performed with a low risk
(Trisomy 13, 18, 21) and a morphological ultrasound did not found
any abnormalities, the last consultation was more than 2 months ago.
e ultrasound examination showed, a pregnancy proportional to
the term; an akinetic fetus in a transverse lie, with multiple
contractures, excess amniotic uid. Further analysis conrmed
arthrogryposis with club feet, clenched sts, amyotrophy, facial
dysmorphia (Figures 1 and 2), and pulmonary hypoplasia with absence
of respiratory movement.
Spontaneous premature labor and a ceasarian section were
performed. e baby died a few minutes aer birth.
At autopsy, similar facial abnormalities, contracture, the neck was
short (Figure 1), pulmonary hypoplasia and severe lumbar scoliosis
were also present. An ankylosis of the temporomandibular joint
resulted in a trismus. e brain, spinal cord and muscle were
unremarkable.
A karyotype was without abnormalities. No etiology founded for
this akinesia.
Figure 1: Baby with short neck.
Journal of Neonatal Biology Achour et al., J Neonatal Biol 2017, 6:1
DOI: 10.4172/2167-0987.1000249
Case Report OMICS International
J Neonatal Biol, an open access journal
ISSN:2167-0897
Volume 6 • Issue 1 • 1000249
Figure 2: Facial dysmorphia.
Discussion
e prevalence of arthrogryposis is estimated 1/3000 to 1/10000
births. Arthrogryposis is not a specic diagnosis but a syndrome seen
in dierent diseases that have in common the existence of multiple
congenital contractures. e etiologies are multiple and can be
maternal or fetal, neurogenic or myogenic and the prognosis depends
essentially on the etiology.
In this case, the challenge for obstetricians is to evaluate the fetal
and maternal prognosis, in order to oer the most accurate counselling
and to be able to formulate a therapeutic action plan. Multidisciplinary
care including obstetrician, geneticist and neonatologist is always
recommended.
Conclusion
e antenatal ultrasound diagnosis of arthrogryposis is oen
possible when the examination is done by an expert. e nding of an
oligohydramnion should indicate a more detailed ultrasonographic
examination in search of other anomalies.
e ultrasound nding of fetal akinesia is always source of anxiety
for the obstetrician.
Identifying the etiology of congenital contractures remains
uncertain until today and is an important area of research for prenatal
diagnosis and pediatric care.
Recent research in molecular genetics and immunohistochemistry
seems to be useful in clarifying certain etiologies.
References
1. Rink BD (2011) Arthrogryposis: A review and approach to prenatal
diagnosis. Obstet Gynecol Surv 66: 369-377.
2. Navti OB, Kinning E, Vasudevan P, Barrow M, Porter H, et al. (2010)
Review of perinatal management of arthrogryposis at a large UK teaching
hospital serving a multiethnic population. Prenat Diagn 30: 49-56.
3. Navti OB, Kinning E, Vasudevan P, Barrow M, Porter H, et al. (2010)
Review of perinatal management of arthrogryposis at a large UK teaching
hospital serving a multiethnic population. Prenat Diagn 30: 49-56.
4. Bamshad M, Van Heest AE, Pleasure D (2009) Arthrogryposis: A review
and update. J Bone Joint Surg Am 91: 40-46.
5. O'Flaherty P (2001) Arthrogryposis multiplex congenita. Neonatal Netw
20: 13-20.
6. Velisavljev-Filipović G (2006) [Arthrogryposis multiplex congenita--a
rare congenital sti joints syndrome]. Med Pregl 59: 375-379.
Citation: Achour R, Amari S, Jamaa NB, Ksibi I, Kacem S, et al. (2017) Arthrogryposis Multiplex Congenital: Case Report. J Neonatal Biol 6:
249. doi:10.4172/2167-0987.1000249
Page 2 of 2
J Neonatal Biol, an open access journal
ISSN:2167-0897
Volume 6 • Issue 1 • 1000249
ResearchGate has not been able to resolve any citations for this publication.
Arthrogryposis: A Review and Approach to Prenatal Diagnosis
Article
  • Jun 2011
  • OBSTET GYNECOL SURV
Unlabelled: Congenital contractures are a common ultrasound finding. Arthrogryposis, defined as multiple contractures involving more than one area of the body, is not a specific diagnosis but rather a description of clinical findings. It is associated with more than 300 different disorders, many of which have other associated malformations and/or neurocognitive delay. Lack of fetal movement or akinesia commonly accompanies the contractures. The underlying diagnosis may be the result of a neurogenic or myopathic process, a connective tissue disorder, intrauterine compression, a teratogenic exposure or vascular insult. When a patient presents with arthrogryposis, the challenge for obstetricians is to assess the fetal condition, associated abnormalities and family history to offer the most accurate counseling and diagnosis. A multidisciplinary approach incorporating obstetrics, genetics, pediatric neurology, and fetopathology is warranted. Prenatal diagnostic testing options are available. Postnatal evaluation by pediatric specialists is important and offers enhanced diagnostic capabilities and recurrence risk counseling. We present an organized approach to the prenatal assessment of arthrogryposis as well as recommendations for intrapartum and postpartum care. Target audience: Obstetricians & Gynecologists, Family Physicians Learning objectives: After completing this CME activity, physicians should be better able to define arthrogryposis and identify a classification framework to approach prenatal diagnosis, develop a differential diagnosis for a fetus who demonstrates arthrogryposis, formulate an action plan for prenatal diagnosis and assess the importance of a multidisciplinary approach to counseling and care when a fetus is identified to have arthrogryposis.
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Review of perinatal management of arthrogryposis at a large UK teaching hospital serving a multiethnic population
Article
  • Nov 2009
  • PRENATAL DIAG
To review the prevalence and perinatal management of cases of arthrogryposis delivering at our hospital over a 6-year period. This was a retrospective review of cases of arthrogryposis managed at a UK teaching hospital. Cases were identified from the regional congenital anomalies register and departmental databases. Case notes were reviewed and analysed. From 2002 to 2007, there were 27 cases of arthrogryposis. Sixteen (59.3%) were Caucasians, 7(25.9%) Asians and 4(14.8%) Afro-Caribbean; 17(63%) were nulliparous. In eight (29.6%) cases, there was a family history of congenital anomalies. Three had previously affected siblings and in three cases the parents were affected with arthrogryposis. Five (18.5%) were from consanguineous families. Eighteen (66.7%) cases were diagnosed prenatally at a mean gestational age of 21 weeks. Twelve (57%) were delivered by caesarean section. There were 18 live births. Sixteen (59%) cases were reviewed by clinical geneticist. Following detailed review and investigation including post-mortems, 20 (74%) of our cases had a formal diagnosis or likely cause identified. Suspected cases of arthrogryposis require multi-disciplinary management to optimise the possibility of making a diagnosis and providing parents with accurate information to enable them to make informed choices regarding the pregnancy and providing information regarding likelihood of recurrence.
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Arthrogryposis Multiplex Congenita
Article
  • Jul 2001
Arthrogryposis multiplex congenita (AMC) is a term that is used to describe the presence of multiple joint contractures at birth. AMC can be seen singularly or in conjunction with other abnormalities. Historically, the term arthrogryposis was used as a disease diagnosis, but it is now clear that AMC is not a disease entity but a syndrome, involving a manifestation of many fetal and neonatal disorders of the neuromuscular system. Its etiology is multifocal, and there is a wide variation in the degree to which muscles and joints are affected. Early identification and implementation of a plan of therapy are essential. The purpose of this article is to provide an overview of the AMC syndrome, specifically, clinical features, etiology, diagnosis, therapeutic interventions, family support, and outcomes.
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