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1.
Pediatr Med Chir ; 8(3): 429-32, 1986.
Article in Italian | MEDLINE | ID: mdl-3786208

ABSTRACT

The authors report a case of Robinow Syndrome in a child 22 months old, who presented a relaxatio diaphragmatic too. This is the first case, among about twenty cases indicated in literature, in whom this type of malformation is present.


Subject(s)
Abnormalities, Multiple/pathology , Diaphragm/abnormalities , Dwarfism/pathology , Face/abnormalities , Female , Humans , Infant , Syndrome
2.
Pediatr Med Chir ; 6(2): 285-94, 1984.
Article in Italian | MEDLINE | ID: mdl-6531252

ABSTRACT

The authors report three cases of patients with clinical findings of Mucolipidosis III. Contractures of joint, stiffness of the hands short stature and coarse faces were observed. The lisosomal enzyme activities in serum and leucocytes were measured. The same activities were measured in extracts and by means of cultured skin fibroblast cells. These data are concordant with literature. These patients come from a Calabrian village of 100 habitants 90% of whom have the same surname.


Subject(s)
Mucolipidoses/diagnosis , Adult , Bone Diseases, Metabolic/diagnostic imaging , Child , Female , Humans , Hydrolases/analysis , Italy , Lysosomes/analysis , Male , Mucolipidoses/complications , Mucolipidoses/diagnostic imaging , Mucolipidoses/enzymology , Mucolipidoses/epidemiology , Mucolipidoses/genetics , Radiography , Space-Time Clustering
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