Search | VHL Regional Portal

[Monosomy 7qter: 2 new cases of chromosomal pathology with aspecific disorders of pre- and post-natal development]. / Monosomia 7qter: due nuovi casi di una patologia cromosomica con disturbi aspecifici dello sviluppo pre- e post-natale.

Vianello, M G; Cottafava, F; Bartoli, D; Piccotti, E; Gastaldi, R; Balagi, C; Casazza, R.

Minerva Pediatr ; 42(6): 257-61, 1990 Jun.

Article in Italian | MEDLINE | ID: mdl-2250634

ABSTRACT

Many cases of 7q deletion associated with mental retardation and multiple malformations have been described, nevertheless it is quite different to recognize common features among these infants. In this paper the cases of two female infants with uncommon facial features and 7q deletion are described. We also try to recognize the phenotypic features of this chromosomal disorder.

Subject(s)

Chromosome Aberrations , Chromosome Deletion , Chromosome Disorders , Chromosomes, Human, Pair 7 , Chromosome Banding , Female , Humans , Infant , Karyotyping

[Stickler's syndrome]. / La sindrome di Stickler.

Balagi, C; Nieri, S; Prestandrea, C; Tomà, P; Rossi, P; Oldani, R; Cottafava, F.

Minerva Pediatr ; 39(23-24): 1181-6, 1987 Dec 31.

Article in Italian | MEDLINE | ID: mdl-3451075

Subject(s)

Abnormalities, Multiple , Orofaciodigital Syndromes , Abnormalities, Multiple/diagnostic imaging , Child , Cleft Palate/complications , Eye Diseases/complications , Female , Hip Joint , Humans , Joint Diseases/complications , Joint Diseases/diagnostic imaging , Joint Instability/complications , Myopia/complications , Orofaciodigital Syndromes/diagnostic imaging , Radiography

[Partial 3q trisomy. Description of a case and review of the literature]. / Trisomia 3q parziale. Descrizione di un caso, discussione e revisione della letteratura.

Vianello, M G; Besio, B; Bartoli, D; Balagi, C; Corciulo, P; Cottafava, F.

Minerva Pediatr ; 39(9): 385-92, 1987 May 15.

Article in Italian | MEDLINE | ID: mdl-3627069

Subject(s)

Chromosomes, Human, Pair 10 , Facial Bones/abnormalities , Skull/abnormalities , Trisomy , Cleft Palate/etiology , Humans , Infant, Newborn , Karyotyping , Male

[Incontinentia pigmenti. Observations and research in 2 cases]. / Incontinentia pigmenti. Osservazioni e ricerche in due casi.

Bartoli, D; Balagi, C; Gramegna, M; Occhi, M; Racugno, A; Oldani, R; Cottafava, F.

Minerva Pediatr ; 39(8): 329-35, 1987 Apr 30.

Article in Italian | MEDLINE | ID: mdl-3614161

Subject(s)

Incontinentia Pigmenti/pathology , Pigmentation Disorders/pathology , Child, Preschool , Female , Follow-Up Studies , Humans , Incontinentia Pigmenti/complications , Incontinentia Pigmenti/genetics , Infant , Pedigree , Phenotype

[Iridocyclitis in infantile rheumatoid arthritis. Case material of the Gaslini Pediatric Clinic of the University of Genoa]. / L'iridociclite nell'ARI pauciarticolare. Casistica della 1a Clinica Pediatrica G. Gaslini dell'Università di Genova.

Fedi, M; Rossi, A; Balagi, C; Corciulo, P; Tosca, P; Cosso, D; Cottafava, F.

Minerva Pediatr ; 39(5-6): 195-200, 1987 Mar 31.

Article in Italian | MEDLINE | ID: mdl-3600571

Subject(s)

Arthritis, Juvenile/complications , Uveitis, Anterior/etiology , Arthritis, Juvenile/immunology , Child, Preschool , Female , HLA Antigens/analysis , Humans , Infant , Male , Uveitis, Anterior/drug therapy

ABSTRACT

Subject(s)

Subject(s)

Subject(s)

Subject(s)

Subject(s)

SEND TO:

SELECTION OF CITATIONS

SEARCH DETAIL