Arthrogryposis multiplex congenita: fetal sonographic, clinical and genetic findings in seven cases from a tertiary care center in Switzerland

Introduction Congenital arthrogryposis (CA) is a clinical finding, which describes the presence of at least two congenital joint contractures in more than one area of the body. It can be caused by over 400 conditions and its etiology lies mainly in the abnormal neurological development of the fetus. The objective of our study was to accurately describe and analyze the sonographic, clinical and genetic characteristics of skeletal alterations in fetuses and infants diagnosed with CA in our tertiary care center in the last 10 years.

Material and methods Seven patients were enrolled in our study. In five cases,CA was diagnosed prenatally. Sonographic and clinical characteristics of skeletal alterations were accurately described in each case. Moreover, autopsy and genetic findings were assessed, where applicable.

Results In the prenatally diagnosed cases, most fetuses presented hyperflexion of the radiocarpal articulation and talipes equinovarus. Hyperflexion of the elbow articulation, micrognatia and hypocoiling of the umbilical cord were also common findings, whereas cystic hygroma or elevated nuchal translucency were isolated. In one case, both parents were heterozygous carrier of the TOR1A gene and conceived two children with CA, who both died after delivery. In another case, atypical 22q11.22 deletion was detected, but did not correlate with clinical findings. Postnatally diagnosed cases were milder, clinical findings included talipes equinovarus, hyperflexion of the elbow articulation and hypospadias. One of these children presents light neurodevelopmental delay.

Conclusion The heterogeneity of clinical manifestations makes classification of CA difficult. Genetic annotation and categorization remain a challenge.

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Publication History

Article published online:
07 October 2020