TY - JOUR
T1 - Failure to thrive as presentation in a patient with 22q11.2 microdeletion
AU - Bossi, Grazia
AU - Gertosio, Chiara
AU - Meazza, Cristina
AU - Farello, Giovanni
AU - Bozzola, Mauro
PY - 2016/2/11
Y1 - 2016/2/11
N2 - 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. 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. Conclusions: Sometimes, in infants with growth failure a genetic analysis is strongly suggested, since chromosomal abnormalities may be present.
AB - 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. 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. Conclusions: Sometimes, in infants with growth failure a genetic analysis is strongly suggested, since chromosomal abnormalities may be present.
KW - Chromosome abnormalities
KW - Failure to thrive
KW - Growth hormone deficiency
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U2 - 10.1186/s13052-016-0224-0
DO - 10.1186/s13052-016-0224-0
M3 - Article
AN - SCOPUS:84957804273
VL - 42
JO - Italian Journal of Pediatrics
JF - Italian Journal of Pediatrics
SN - 1720-8424
IS - 1
M1 - 224
ER -