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Failure to thrive as presentation in a patient with 22q11.2 microdeletion.
- Source :
-
Italian journal of pediatrics [Ital J Pediatr] 2016 Feb 11; Vol. 42, pp. 14. Date of Electronic Publication: 2016 Feb 11. - Publication Year :
- 2016
-
Abstract
- Background: Abnormalities of chromosome 22q11, including deletions and translocations, have been described in association with different birth defects and malformations occurring in many combinations and degrees of severity.<br />Case Presentation: We describe the case of an 8 month-old infant with no dysmorphic signs who showed progressive postnatal growth failure and no chronic systemic diseases. We found a 22q11.2 microdeletion, inherited from the mother, suggesting the diagnosis of DiGeorge syndrome. The patient had an isolated growth hormone (GH) deficiency and a significant increase in linear growth during the first and the second year of GH therapy, and a recovery of weight was shown.<br />Conclusions: Sometimes, in infants with growth failure a genetic analysis is strongly suggested, since chromosomal abnormalities may be present.
Details
- Language :
- English
- ISSN :
- 1824-7288
- Volume :
- 42
- Database :
- MEDLINE
- Journal :
- Italian journal of pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 26864739
- Full Text :
- https://doi.org/10.1186/s13052-016-0224-0