Document Detail


Arthrogryposis multiplex congenita, Pena-Shokeir phenotype, with gastroschisis and agenesis of the leg.
MedLine Citation:
PMID:  2974953     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A young mother had a stillborn infant at 33 weeks' gestation, the pregnancy complicated by polyhydramnios. The parents were unrelated, healthy, and both had a normal karyotype. The infant had multiple malformations such as ankylosis, facial anomalies, and pulmonary hypoplasia. A severe gastroschisis and agenesis of the right leg were also present. The neuropathologic findings were those of marked atrophy of anterior horn motor cells in the spinal cord and neurogenic muscle atrophy. This is a case of Pena-Shokeir syndrome with two additional features: gastroschisis and agenesis of the right leg. This syndrome represents a lethal form of arthrogryposis multiplex congenita, and the essential neuropathologic findings are marked reduction in the number of spinal motor cells and neurogenic muscle atrophy.
Authors:
M Agapitos; M Georgiou-Theodoropoulou; A Koutselinis; N Papacharalambus
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric pathology / affiliated with the International Paediatric Pathology Association     Volume:  8     ISSN:  0277-0938     ISO Abbreviation:  Pediatr Pathol     Publication Date:  1988  
Date Detail:
Created Date:  1989-02-17     Completed Date:  1989-02-17     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8303527     Medline TA:  Pediatr Pathol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  409-13     Citation Subset:  IM    
Affiliation:
Department of Pathology, University of Athens Medical School, Goudi, Greece.
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MeSH Terms
Descriptor/Qualifier:
Abdominal Muscles / abnormalities*
Abnormalities, Multiple / pathology*
Arthrogryposis / complications,  genetics*,  pathology
Female
Humans
Infant, Newborn
Infant, Newborn, Diseases / pathology
Intestines / abnormalities*
Leg / abnormalities*
Phenotype

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


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