Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 1 de 1
Filter
Add more filters










Database
Language
Publication year range
1.
BMJ Case Rep ; 20112011 Mar 25.
Article in English | MEDLINE | ID: mdl-22700067

ABSTRACT

In 1998, a multiprofessional group developed a consensus on growth monitoring in the UK. While routine serial measurements were not recommended in healthy children, it is clear that there is a subset of children at increased risk of growth-modifying disease who may benefit from growth monitoring. This subset includes children with genetic disorders at increased risk of thyroid dysfunction. Symptoms and signs of thyroid dysfunction are non-specific in the early stages of disease and are easily mistaken for features of an underlying genetic disorder. In this article, we report the case of a 2.8-year-old girl with 18q deletion syndrome who was profoundly weak, hypotonic and poorly responsive at diagnosis of Grave's disease. She was tall and her bone age was 2 years advanced, indicating long-standing disease. Growth monitoring of this patient should have enabled earlier diagnosis and avoided a serious and potentially fatal episode.


Subject(s)
Chromosome Disorders/complications , Delayed Diagnosis , Graves Disease/diagnosis , Child, Preschool , Chromosome Deletion , Chromosomes, Human, Pair 18 , Female , Graves Disease/complications , Growth Charts , Humans
SELECTION OF CITATIONS
SEARCH DETAIL
...