Mucopolysaccharidosis type 2

A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.

Spatulate ribs

Ribs that are increased in width and taper to the posterior ends.


Total: 1

                      


(per page)
PMID (PMCID)
22629520
(3354861)
OTHER
Short stature with umbilical hernia - Not always due to cretinism: A report of two cases.
Gadve SS, Sarma D, Saikia UK.
Indian J Endocrinol Metab. 2012;16(3):453-6.
Radiological evaluation showed that the child had Hunter syndrome with findings of J-shaped sellaturcica, proximal bulleting of metacarpals, spatulated ribs and anterior beaking of lumbar vertebrae.