Cystic fibrosis and Russell‐Silver syndrome in a child with maternal isodisomy of chromosome 7

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 investigat...

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Bibliographic Details
Published in:Pediatric pulmonology 2005-08, Vol.40 (2), p.166-168
Main Authors: Sonnappa, Samatha, Prescott, Katrina, Adler, Beryl, Dinwiddie, Robert, Wallis, Colin
Format: Article
Language:English
Subjects:
Biological and medical sciences
Child
Chromosomes, Human, Pair 7
cystic fibrosis
Cystic Fibrosis - complications
Cystic Fibrosis - genetics
Errors of metabolism
Female
Growth Disorders - etiology
Growth Disorders - genetics
Humans
maternal uniparental disomy 7
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Pneumology
Russell‐Silver syndrome
Syndrome
Uniparental Disomy
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Summary: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.
ISSN:8755-6863
1099-0496
DOI:10.1002/ppul.20254