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2016-11-01  Arthrogryposis  © Lusine Karapetyan

City clinical hospital #70, perinatal center, Moscow, Russia.

Case report

This is a case of a 31-year old woman (G1P0)  after IVF who was referred to our institution for a first trimester anomaly scan at 11 weeks 4 days of gestation. 
Her personal and familial history were unremarkable. First trimester scan and subsequent biochemical tests were normal.  

She was scanned  again at 13-14 weeks. Fetal heart was normal, but  there was a cystic avascular anechoic abdominal mass near to the right lobe of the liver and  apparent  hydrops (hydrothorax, ascites, anasarca).
Also no fetal movements were seen during the  examination (1 hour), fixed position of legs and hands on the chest ,bilateral club feet and fixed retroflexion of the head.

Chorionic villus sampling was performed with a normal result 46XX.

We scanned the patient again at 15-16 weeks of gestation and we found similar findings than previous ultrasound examination.

The abdominal mass became slightly septated and hydrops spontaneously resolved.

We presumed that  the mass could be an abdominal lymphangioma,liver cyst or transient abdominal cyst.

We presumed  the affection of all major joints ( knee, ancle, wrist,elbow,hip and maybe atlanto-occipital )
The parents opted for the pregnancy termination.The pregnancy was  terminated at 19-20 weeks, according to the parents decision. 

Postmortem appearance of the abortus confirmed our diagnosis: Arthrogryposis multiplex congenita.

Following images and videos at 13-14 weeks show fetal hydrops,abdominal mass, absent movements and fixed retroflexion of the head,
 fixed position of the hands on the fetal chest and fixed position of the legs with bilateral club feet.


Postmortem images of the abortus confirmed our diagnosis.


Arthrogryposis or arthrogryposis multiplex congenita (AMC) is a generic term used  to describe  non progressive multiple joint contractures secondary to fetal akinesia or dyskinesia  and involving two or more body regions. Its incidence is 1 in 3000 livebirths[1][2].

The etiology is multi-factorial and may be fetal (neurogenic, musculoskeletal abnormalities) or maternal (related to drugs, trauma or infectious  chronic  maternal disease)[4].  Altered fetal movement is considered to be a contributor in pathogenesis. Genetic causes may be present only in 30% of cases.[2] Arthrogryposis can be associated with numerous syndromic as well as non syndromic conditions.

Prenatal diagnosis is based on the demonstration of multiple joint contractures that may not become apparent until the end of the second  trimester of pregnancy[3]. A lack  of fetal movement  is considered to be a key feature.[2] Lack of mobility and contractures results of poor muscle development  in affected regions. Antenatal ultrasound may show abnormal limb positioning, club feet , scoliosis, polyhydramnios or oligohydramnios, short umbilical cord, pulmonary hypoplasia ,micrognathia, subcutaneous edema, increased nuchal  translucency thickness[2][3].


[1] .  O. Navti, E. Kinning, M. Khare, E. Howarth, M. Barrow and P. Vasudevan  Arthrogryposis: 5-year review of cases at a large UK teaching Hospital (Ultrasound in ob.gyn.2008)

[2] Arthrogryposis

[3]  J. Hyett, P. Noble, N. J. Sebire, R. Snijders and Professor K. H. Nicolaides Lethal congenital arthrogryposis presents with increased nuchal translucency at 10–14 weeks of gestation (Ultrasound in ob.gyn.2002)
[4] B. Sheizaf, M. Mazor, D. Landau, E. Burstein, A. Bashiri and R. Hershkovitz Early sonographic prenatal diagnosis of seizures(Ultrasound in ob.gyn.2007)


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