Updated 01/18/2006 by Juliana Leite, MD

Synonyms: Congenital contractures, fetal akinesia sequence, Pena-Shokeir syndrome.

Definition: This heterogeneous set of conditions shares limitation of movements and joint ankylosis as main findings.

Figure 1: Newborn with Arthrogryposis Multiplex Congenita. Note the pronounced anomalies of the limbs that are very rigid. Also note the linear fingers with lack of visible flexion joints. The newborn died of respiratory failure a few hours after the images was obtained. (Image courtesy of the mother)

Incidence: 1-3:10,000

Etiology: Possibly autosomal dominant.

Pathogenesis: Arthrogryposis results from decreased in-utero motion, either from neural , muscular, connective tissue, infectious origin.

Diagnosis: Although the anomalies are obvious when recognized and in particular when the baby is born, the prenatal diagnosis may be challenging when fluid is decreased, and the abnormal limb position appears attributable to the oligohydramnios. Some forms are associated with polyhydramnios and then the abnormal limb position (knocked knee), genu recurvatum, clubfeet and hand) make the diagnosis easy. Polyhydramnios is often a manifestation of decreased swallowing, which may be part of the same pathogenesis as the arthrogryposis itself (muscular or neuronal deficit). An increased in nuchal lucency as well as the characteristic decreased movement can also be seen in the first trimester.

Figure 2: A different fetus with abnormal and rigid position of the knee. The distance between the knee is less than that between the hips. Also note that both feet are inverted.

Genetic anomalies: Several anomalies have been linked to the following site 5q35, 9p21-q21, 11p15.5.

Differential diagnosis: Trisomy 18, renal agenesis and myotonic dystrophy may present with some similar findings.

Associated anomalies: Because of the heterogeneity of the conditions numerous associated anomalies have been described including scoliosis, CNS anomalies even seizures.

Prognosis: The prognosis will depend on associated anomalies (respiratory limitations, scoliosis.)

Management: Termination of pregnancy can be offered before viability. Standard prenatal care is not altered when continuation the pregnancy is opted for. Confirmation of diagnosis after birth is important for genetic counseling.

References:

[1] Lammens M, Moerman P, Fryns JP, Lemmens F, van de Kamp GM, Goemans N, Dom R Fetal akinesia sequence caused by nemaline myopathy. Neuropediatrics 1997 Apr;28(2):116-9

[2] Hyett J, Noble P, Sebire NJ, Snijders R, Nicolaides KH Lethal congenital arthrogryposis presents with increased nuchal translucency at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 1997 May;9(5):310-3

[3] Ajayi RA, Keen CE, Knott PD: Ultrasound diagnosis of the Pena Shokeir phenotype at 14 weeks of pregnancy. Prenat Diagn 1995 Aug;15(8):762-4

[4] Skupski DW, Sepulveda W, Udom-Rice I, Leo MV, Lescale KB, Chervenak FA: Fetal seizures: further observations. Obstet Gynecol 1996 Oct;88(4 Pt 2):663-5