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Biomedical subjects

B Boscherini

Publications and source records attributed to B Boscherini.

95 records · Page 6Linked to original sources

[Growth disorders].

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Adolescent↗

Harmonic dwarfism, lymphopenia, deficit of IgA and IgE in a 6-year old boy.

A six-year old boy who had suffered from the age of two with chronic diarrhea has been found to be severely retarded in statural growth. Examinations discovered marked lymphopenia with a T lymphocyte defect accompanied by absent IgA and IgE. In contrast with other cases described in literature, in this case the immunodeficiency was not accompanied by bone or cartilage alterations. The only factor apparently responsible for his lack of growth was the malabsorption.

Child↗

[Multiple pterygium syndrome: description of a new clinical case].

Multiple Pterygium Syndrome is a rare autosomal recessive disorder characterized by short stature, multiple pterygium, joint contractures, vertebral fusions and minor facial anomalies. Due to the extreme phenotypic variability of this syndrome many mild cases may be misdiagnosed or not recognized. The importance of an early diagnosis is to provide an adequate follow-up of these children in order to try to prevent many of the clinical problems they may encounter in their life-time.

Abnormalities, Multiple↗