| Two sisters with Escobar syndrome. | |
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MedLine Citation:
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PMID: 7677145 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on 2 sisters with an autosomal-recessive multiple pterygium syndrome, type Escobar, consisting of multiple pterygia with severe contractures, short stature, and minor facial and external genital anomalies. The striking finding was severe muscular atrophy. We speculate that a neuromuscular disorder is the underlying pathogenesis of Escobar syndrome. |
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Authors:
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S Spranger; M Spranger; H M Meinck; G Tariverdian |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 57 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1995 Jul |
Date Detail:
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Created Date: 1995-10-19 Completed Date: 1995-10-19 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 425-8 Citation Subset: IM |
Affiliation:
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Institute of Human Genetics and Anthropology, University of Heidelberg, Germany. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
/
genetics,
physiopathology* Arthrogryposis / physiopathology Body Height Child Face / abnormalities Female Genitalia, Female / abnormalities Hand Deformities, Congenital / physiopathology Humans Infant, Newborn Syndrome |
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