Document Detail

Arthrogryposis multiplex congenita and cerebellopontine ischemic lesions in sibs: recurrence of prenatal disruptive brain lesions with different patterns of expression?
MedLine Citation:
PMID:  11914567     Owner:  NLM     Status:  MEDLINE    
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.
D Mahieu-Caputo; L J Salomon; M Dommergues; M C Aubry; P Sonigo; Y Martinovic; M Le Merrer; Y Dumez; F Encha-Razavi
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Fetal diagnosis and therapy     Volume:  17     ISSN:  1015-3837     ISO Abbreviation:  Fetal. Diagn. Ther.     Publication Date:    2002 May-Jun
Date Detail:
Created Date:  2002-03-26     Completed Date:  2002-09-17     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9107463     Medline TA:  Fetal Diagn Ther     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  153-6     Citation Subset:  IM    
Copyright Information:
Copyright 2002 S. Karger AG, Basel
Service de Gynécologie-Obstétrique, Hôpital Bichat, Paris, France.
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MeSH Terms
Arthrogryposis / diagnosis,  genetics*
Brain / embryology,  pathology
Brain Ischemia / genetics*
Cerebellum / blood supply*,  pathology
Gestational Age
Magnetic Resonance Imaging
Pons / blood supply*
Prenatal Diagnosis*
Tomography, X-Ray Computed
Ultrasonography, Prenatal

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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