Genetic causes of macroglossia: diagnostic approach.


Abstract

These results can be used to improve our strategy in the evaluation of macroglossia.

Distinction between isolated macroglossia and BWS may be difficult when only taking into account clinical features.

These findings suggest that all patients with apparently isolated macroglossia have at least initial evaluation with abdominal ultrasounds and molecular studies for BWS before a final diagnosis is given. BWS was the most common cause of macroglossia even in the absence of additional clinical findings.


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Publication date

2012-02-03


Journal

Pediatrics
Pediatrics (1098-4275)



Language

Eng.


Copyright

Pediatrics

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.


Release reference

Pediatrics. 2012 Feb;129(2):e431-7



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