Arthrogryposis multiplex congenita and cerebellopontine ischemic lesions in sibs: recurrence of prenatal disruptive brain lesions with different patterns of expression?

Fetal Diagn Ther. 2002 May-Jun;17(3):153-6. doi: 10.1159/000048029.


Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders in which prolonged decrease or absence of fetal movements results in a series of deformational anomalies. The rate of recurrence ranges from 25% in some recessive forms of myogenic arthrogryposis or of primary anterior horn cell loss, to less than 1% in anoxic-ischaemic damage. Cerebral clastic processes are considered as sporadic. We report on a non-consanguineous family in which the first child was affected by AMC and the following pregnancy was terminated because cerebellum hypoplasia was suspected at ultrasound and confirmed by fetal magnetic resonance imaging. Post-mortem findings demonstrated pontocerebellar ischaemic-haemorrhagic injuries. The occurrence of these neurologic abnormalities in the same family suggests a common mechanism, which might correspond to a same genetic defect with different patterns of expression. This is the first prenatal report suggesting that an 'ischaemic' process, usually recognised as sporadic could in fact be due to an inherited abnormality. Careful prenatal follow-up of third-trimester fetal brain development may be required in pregnant women with a family history of AMC.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Arthrogryposis / diagnosis
  • Arthrogryposis / genetics*
  • Brain / embryology
  • Brain / pathology
  • Brain Ischemia / genetics*
  • Cerebellum / blood supply*
  • Cerebellum / pathology
  • Female
  • Gestational Age
  • Humans
  • Magnetic Resonance Imaging
  • Pons / blood supply*
  • Pregnancy
  • Prenatal Diagnosis*
  • Tomography, X-Ray Computed
  • Ultrasonography, Prenatal