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
3.
Arch Putti Chir Organi Mov
; 33: 423-30, 1983.
Article
in Italian
| MEDLINE
| ID: mdl-6677229
4.
Arch De Vecchi Anat Patol
; 64(1): 59-73, 1980.
Article
in Italian
| MEDLINE
| ID: mdl-7027970
5.
Radiol Med
; 64(11): 1286, 1978 Nov.
Article
in Italian
| MEDLINE
| ID: mdl-740939
6.
Minerva Pediatr
; 28(1): 1-12, 1976 Jan 14.
Article
in Italian
| MEDLINE
| ID: mdl-1256378
7.
Rev Eur Etud Clin Biol
; 17(4): 375-9, 1972 Apr.
Article
in English
| MEDLINE
| ID: mdl-5079227
8.
Minerva Pediatr
; 22(22): 1101-24, 1970 Jun 02.
Article
in Italian
| MEDLINE
| ID: mdl-5477000
9.
Riv Clin Pediatr
; 82: 314-9, 1969.
Article
in Italian
| MEDLINE
| ID: mdl-5405485
Subject(s)
Abnormalities, Multiple , Craniofacial Dysostosis , Dwarfism/congenital , Humans , Infant , Male
10.
Riv Clin Pediatr
; 82: 330-40, 1969.
Article
in Italian
| MEDLINE
| ID: mdl-5405487
Subject(s)
Abnormalities, Multiple , Arthrogryposis , Arthrogryposis/etiology , Female , Humans , Infant, Newborn , Karyotyping
11.
Riv Clin Pediatr
; 82: 320-9, 1969.
Article
in Italian
| MEDLINE
| ID: mdl-5405486
Subject(s)
Chromosome Aberrations , Chromosome Disorders , Chromosomes, Human, 13-15 , Trisomy , Dermatoglyphics , Humans , Infant, Newborn , Karyotyping , Male , Phenotype
12.
Riv Clin Pediatr
; 82: 378-85, 1969.
Article
in Italian
| MEDLINE
| ID: mdl-5405493
Subject(s)
Myositis Ossificans , Child, Preschool , Humans , Male , Myositis Ossificans/diagnostic imaging , Radiography
13.
Riv Clin Pediatr
; 82: 412-6, 1969.
Article
in Italian
| MEDLINE
| ID: mdl-5405496
Subject(s)
Blood Protein Electrophoresis , Glycoproteins/blood , Meningitis, Meningococcal/blood , Meningococcal Infections/blood , Sepsis/blood , Child , Child, Preschool , Female , Humans , Infant , Male
14.
Riv Clin Pediatr
; 82: 417-21, 1969.
Article
in Italian
| MEDLINE
| ID: mdl-5405497
Subject(s)
Blood Protein Electrophoresis , Burns/blood , Glycoproteins/blood , Age Factors , Child , Child, Preschool , Female , Humans , Infant , Male
15.
Riv Clin Pediatr
; 82: 428-32, 1969.
Article
in Italian
| MEDLINE
| ID: mdl-5405499
Subject(s)
Blood Protein Electrophoresis , Glycoproteins/blood , Mumps/blood , Adolescent , Age Factors , Child , Child, Preschool , Female , Humans , Male , Methods
16.
Riv Clin Pediatr
; 82: 445-51, 1969.
Article
in Italian
| MEDLINE
| ID: mdl-5405501
17.
Riv Clin Pediatr
; 82: 452-61, 1969.
Article
in Italian
| MEDLINE
| ID: mdl-5405502
18.
Panminerva Med
; 11(9): 419-35, 1969 Sep.
Article
in English
| MEDLINE
| ID: mdl-4242852
19.
Acta Neurol (Napoli)
; 24(4): 613-25, 1969.
Article
in Italian
| MEDLINE
| ID: mdl-4101181
Subject(s)
Adrenal Cortex Hormones/therapeutic use , Adrenocorticotropic Hormone/therapeutic use , Anti-Inflammatory Agents/therapeutic use , Multiple Sclerosis/immunology , gamma-Globulins/analysis , Adolescent , Adult , Female , Humans , Immunoglobulin G/analysis , Immunoglobulin M/analysis , Immunoglobulins/analysis , Male , Middle Aged , Multiple Sclerosis/drug therapy
20.
Minerva Med
; 60(50): 2465-70, 1969 Jun 23.
Article
in Italian
| MEDLINE
| ID: mdl-5792410