Document Detail

Ullrich-Turner syndrome and neurofibromatosis-1.
MedLine Citation:
PMID:  8989459     Owner:  NLM     Status:  MEDLINE    
There is a well-known association between neurofibromatosis-1 (NF1) and Noonan syndrome-like manifestations, including short stature, short broad neck, and hypertelorism. These anomalies are thought to be due to variable expression of the NF1 gene. We report on two girls with NF1 who were found to have the Ullrich-Turner syndrome. Case 1, a 12-year-old white girl, was followed in a Neurofibromatosis Clinic because of multiple café-au-lait spots and a family history of NF1 in her mother and sister. On examination, she had short stature, hypertelorism, and short neck with low posterior hairline. Karyotype was 86% 46,XY/14% 45,X. Case 2, the first child of a woman with NF1, presented at birth with lymphedema of hands and feet and a short broad neck. Karyotype was 45,X. At age 23 months she was short, had epicanthic folds, hypertelorism, narrow palate, right simian crease, 19 café-au-lait spots, and axillary freckling. We conclude that chromosome studies should be performed in girls with NF1 who have short stature and Noonan- or Ullrich-Turner-like findings. Dilemmas raised by the dual diagnoses of NF1 and Ullrich-Turner syndrome include potential risks of growth hormone therapy and estrogen replacement therapy.
E K Schorry; A M Lovell; A Milatovich; H M Saal
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  66     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1996 Dec 
Date Detail:
Created Date:  1997-03-11     Completed Date:  1997-03-11     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:  423-5     Citation Subset:  IM    
Division of Human Genetics, Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.
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MeSH Terms
Brain Neoplasms / complications*,  genetics
Infant, Newborn
Neurofibromatosis 1 / complications*,  genetics
Noonan Syndrome / genetics
Turner Syndrome / complications*,  genetics

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