In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, such as short stature, thin tooth enamel (dental enamel hypoplasia), moderate mental deficiency, speech delay, asthma,...
Feb 16 2024São Paulo Research Foundation In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, such as short stature, thin tooth enamel , moderate mental deficiency, speech delay, asthma, mildly altered blood sugar, and a history of recurring infections in infancy.
This is one of six cases involving syndromic growth disorders with multiple genetic diagnoses described in the article, which concerns a study conducted by researchers at the University of São Paulo's Medical School with FAPESP's support. "The cases involved two or more rare monogenic conditions in the same patient. Such cases are very hard to diagnose, especially by clinical assessment alone. The study highlights the need to use broad genetic tests such as whole exome or whole genome sequencing for these patients as the only way to identify the rare diseases that explain such clusters of conditions," Lima Jorge said.
Short stature or tall stature is not a diagnosis but a clinical finding. "Short stature may have an external cause, such as an infection or malnutrition. Even so, genetic factors will always be important to growth.
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