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Article
Open AccessTall stature: a difficult diagnosis?
Referral for an assessment of tall stature is less common than for short stature. Tall stature is defined as a height more than two standard deviations above the mean for age. The majority of subjects with tal...
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Article
Open AccessOmitting duodenal biopsy in children with suspected celiac disease and extra-intestinal symptoms
The aim of our study is to evaluate if in children with highly positive serology and HLA-DQ2/DQ8 (triple test, TT) and only extra-intestinal symptoms, it is possible to omit performing an intestinal biopsy for...
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Article
Open AccessFailure to thrive as presentation in a patient with 22q11.2 microdeletion
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.
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Article
Open AccessFive-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency
Noonan syndrome (NS) is an autosomal dominant disorder characterized by specific features including short stature, distinctive facial dysmorphic features, congenital heart defects, hypertrophic cardiomyopathy,...
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Article
Open AccessHereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat?
Osteochondroma generally occurs as a single lesion and it is not a heritable disease. When two or more osteochondroma are present, this condition represents a genetic disorder named hereditary multiple exostos...
