Pectus carinatum as the key to early diagnosis of Morquio A syndrome: a case report

ConclusionsThis case exemplifies the importance of considering mucopolysaccharidoses as part of the initial differential diagnosis of pediatric patients with skeletal deformities; urine glycosaminoglycan levels and a blood enzyme mucopolysaccharidoses panel are simple screening tests that could lead to early definitive diagnosis.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research