Pectus carinatum as the key to early diagnosis of Morquio A syndrome: a case report.
Kento YamauchiDaishi HiranoMiho WadaHiroyuki IdaPublished in: Journal of medical case reports (2021)
This 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.