Diagnosing Arthrogryposis Multiplex Congenita: A Review

Abstract

Arthrogryposis multiplex congenita (AMC) refers either to a syndromic or to a nonsyndromic group of conditions with varied etiology and complex clinical features, including multiple congenital contractures in different body areas. Its etiology still remains unclear but generally any cause that leads to reduced fetal movement may lead to congenital contractures and in severe cases to fetal akinesia deformation sequence (FADS). It affects approximately 1 in 2-3000 live births with an approximately equal gender ratio. There are many known subgroups of AMC differing in signs, symptoms, and causes. The primary diagnosis is made when a lack of mobility and an abnormal position is noted in routine ultrasound scanning. Early diagnosis, prenatal evaluation, and further surveillance via image scanning (ultrasound and MRI) give the opportunity for family counseling concerning neonatal morbidity and mortality and labor or delivery planning. Better understanding of the ultrasound findings and the etiology of this clinical situation offers the opportunity for careful prenatal assessment.

Spectrum of Spinal Cord, Spinal Root, and Brain MRI Abnormalities in Congenital Zika Syndrome with and without Arthrogryposis

“…Arthrogryposis multiplex congenita, often known simply as arthrogryposis, is a syndrome characterized by joint contractures, present since birth, affecting Ն2 areas of the body. [15][16][17][18][19][20] These joint malformations can be attributed to different disorders, such as defects of uterine environment, disorders of connective tissues, muscular dystrophies, and other abnormalities or conditions that affect the central or peripheral nervous systems in at least one of the components of the motor pathways from the spinal cord to muscles. 16,18 Regardless of the cause, children affected by arthrogryposis have onset and severe weakness early in intrauterine life, with immobilization of joints at different developmental stages.…”

Distal Arthrogryposis Multiplex Congenita With Multisystem Involvement: A Case Report

“…The earliest indication by ultrasonography being reduced foetal movements as well as abnormal position of the foetus. [5] The other ultrasound findings include fixed flexion deformity, micrognathia, oligohydramnios, limb deformities, cerebral ventriculomegaly, dysmorphic features.…”

Artrogriposis múltiple congénita: espectro de deformidades en el miembro superior, a propósito de una serie de casos

“…La AMC es producto de una alteración en el músculo, donde se observa disminución de fibras musculares, variación en el tamaño y diámetro e infiltración de grasa o degeneración fibrosa (1,5,6).…”

“…Existe dos tipos principales de AMC: amioplasia y artrogriposis distal (1,3,6); en este último se ha descrito compromiso diverso de las extremidades superiores e inferiores sin problemas cognitivos.…”

“…En las extremidades superiores se tienen como hallazgos comunes la disminución o ausencia de pliegues en zonas de flexión, la rotación interna del hombro y la ausencia o limitación marcada de flexión de codo, mientras que en la muñeca se encuentra flexión extrema y desviación cubital (6)(7)(8)(9)(10). A su vez, los dedos adoptan diferentes tipos de deformidades entre las que se encuentran la camptodactilia y aducción del pulgar (3,8).…”