| 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 |
Related Documents
:
|
3341493 - Spermicide use and pregnancy outcome. 3777983 - Congenital leukaemia: an unusual cause of stillbirth. 18755533 - Correlation of angiotensin converting enzyme activity and the genotypes of the i/d poly... |
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. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| 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
Previous Document: Use of the personal orientation inventory with disabled athletes.
Next Document: Maternal serum thyroid antibodies in early pregnancy and fetal Down's syndrome.