Document Detail

The Börjeson-Forssman-Lehmann syndrome.
MedLine Citation:
PMID:  6683929     Owner:  NLM     Status:  MEDLINE    
Recently we evaluated a Saudi Arabian family in which a severely affected male and a more mildly affected set of monozygotic (MZ) female twins had manifestations of the Börjeson-Forssman-Lehmann syndrome including short stature, hypotonia, mental deficiency, coarse facial appearance with a prominent brow-ridge, and large ears. We present clinical, radiographic, electroencephalographic, and endocrinologic data to further delineate this condition and set forth the manifestations of two normal, presumably heterozygous, females.
L K Robinson; K L Jones; F Culler; W L Nyhan; N Sakati; K L Jones
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  15     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1983 Jul 
Date Detail:
Created Date:  1983-09-23     Completed Date:  1983-09-23     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  457-68     Citation Subset:  IM    
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MeSH Terms
Abnormalities, Multiple / genetics,  pathology*
Adrenal Glands / physiopathology
Gonadal Steroid Hormones / physiology
Pituitary Hormones, Anterior / secretion
Twins, Monozygotic
Reg. No./Substance:
0/Gonadal Steroid Hormones; 0/Pituitary Hormones, Anterior

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