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2004-07-26-23 Arthrogryposis multiplex congenita © Ishraq

Arthrogryposis multiplex congenita

Ishraq Dhaifalah, MD, PhD, Jiri Hyjanek MD., Peter Polak, MD., Jiri Santavy, MD. Prof.

Department of Medical Genetics and Fetal Medicine, University Hospital, Olomouc, Czech Rep.

A 38-year-old woman G4P3 was referred to our hospital for a routine second trimester ultrasound scan. The scan revealed a pregnancy of 24 weeks gestation that corresponded to her last menstrual period. The medical history of the patient was unremarkable.

Our scan revealed multiple anomalies including significant limitation of joint mobility, joint contractures and rigidity. The head was severely hyperextended. Also noted were fixed extremities, flexed arms, clubbed feet, clenched hands and generalized fetal immobility.  The response to acoustic stimulation was absent. Karyotype revealed a normal 46, XX fetus. The sonographic features were compatible with the diagnosis of arthrogryposis congenital multiplex, and the decision to terminate the pregnancy was made.

Fingers in fixed position:

The limb with abnormal angulations

Labor was induced with misoprostol at 24 weeks of gestation. A 750g-girl fetus was delivered vaginally. The postnatal appearance revealed micrognathia and hypertelorism. The joints of the upper and lower limbs were hyper flexed and the feet were clubbed. The internal organs were of normal anatomy. A postnatal baby scan of the whole body showed the hyper-flexed multiple contractures of the joints of the upper and lower extremities. The autopsy findings confirmed the diagnosis.




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