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Cystic fibrosis and Russell‐Silver syndrome in a child with maternal isodisomy of chromosome 7
Author(s) -
Sonnappa Samatha,
Prescott Katrina,
Adler Beryl,
Dinwiddie Robert,
Wallis Colin
Publication year - 2005
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.20254
Subject(s) - failure to thrive , medicine , cystic fibrosis , pediatrics , growth retardation , chromosome 7 (human) , chromosome , genetics , pregnancy , biology , gene
A 6‐year‐old Asian girl was diagnosed with cystic fibrosis at 3 months of age, following investigations for failure to thrive. She had intrauterine growth retardation and continued to have restricted postnatal growth, despite adequate caloric intake and enzyme replacement therapy. Further investigations were initiated when she was 5 years old, as her growth was not responding to the usual treatment measures. These tests revealed that she had maternal isodisomy of chromosome 7. Pediatr Pulmonol. 2005; 40:166–168. © 2005 Wiley‐Liss, Inc.