Search Results - "Carla Graziadio"
-
1
Congenital glucose-galactose malabsorption: A case report about cause and consequence, not exactly in this order
Published in Global pediatrics (01-09-2024)“…Congenital glucose-galactose malabsorption (CGGM) is a rare metabolic disorder caused by a deficient intestinal sodium-dependent glucose cotransporter (SGLT1)…”
Get full text
Journal Article -
2
Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome
Published in Anais brasileiros de dermatología (01-09-2020)“…Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy…”
Get full text
Journal Article -
3
Gómez-López-Hernández Syndrome in a Child Born to Consanguineous Parents: New Evidence for an Autosomal-Recessive Pattern of Inheritance?
Published in Pediatric neurology (01-06-2014)“…Abstract Background Gómez-López-Hernández syndrome is a rare genetic disease characterized by scalp alopecia with trigeminal anesthesia, brachycephaly or…”
Get full text
Journal Article -
4
45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study
Published in São Paulo medical journal (01-12-2014)“…45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical…”
Get full text
Journal Article -
5
Trisomy 18 and Neural Tube Defects
Published in Pediatric neurology (01-09-2013)“…Abstract Background Trisomy 18 or Edwards syndrome is a chromosomal abnormality characterized by a broad clinical picture and a limited survival. More than 130…”
Get full text
Journal Article -
6
Trisomy 18: Experience of a reference hospital from the south of Brazil
Published in American journal of medical genetics. Part A (01-07-2011)“…Trisomy 18 is a chromosomal syndrome characterized by a broad clinical picture, as well as a very reserved prognosis. The aim of our study was to verify the…”
Get full text
Journal Article -
7
Applications of electron microscopy in health: the example of epidermolysis bullosa
Published in Jornal brasileiro de patologia e medicina laboratorial (01-01-2017)“…ABSTRACT We report the case of a patient with dystrophic epidermolysis bullosa (DEB) diagnosed by transmission electron microscopy (TEM), emphasizing the…”
Get full text
Journal Article -
8
Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report
Published in São Paulo medical journal (01-07-2015)“…The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential…”
Get full text
Journal Article -
9
Combined chemotherapy and teratogenicity
Published in Birth defects research. A Clinical and molecular teratology (01-09-2005)“…BACKGROUND The concomitant occurrence of breast cancer and pregnancy is relatively uncommon. We report the case of a patient with syndactyly, cleft hands, and…”
Get full text
Journal Article -
10
Blepharophimosis‐ptosis‐epicanthus inversus syndrome
Published in Pediatrics international (01-06-2011)Get full text
Journal Article -
11
Cytogenetic profile of patients with Down syndrome in southern Brazil
Published in São Paulo medical journal (01-01-2014)Get full text
Journal Article -
12
Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex in a child with nail-patella syndrome
Published in Pediatrics international (01-10-2010)Get full text
Journal Article -
13
Trisomy 18 (Edwards syndrome) and major gastrointestinal malformations
Published in São Paulo medical journal (01-01-2013)Get full text
Journal Article -
14
Type 1 diabetes in a patient with Ellis-van Creveld syndrome
Published in São Paulo medical journal (2012)“…Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disease characterized by disproportionate short stature, narrow thorax, postaxial polydactyly,…”
Get full text
Journal Article -
15
New report of a familial case of Moebius syndrome presenting skeletal findings
Published in American journal of medical genetics. Part A (01-08-2010)Get full text
Journal Article -
16
New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival
Published in São Paulo medical journal (01-12-2011)“…Mosaic trisomy 9 is considered to be a rare chromosomal abnormality with limited survival. Our objective was to report on two patients with mosaic trisomy 9…”
Get full text
Journal Article -
17
Trisomy 12p syndrome secondary to a balanced familial translocation
Published in Pediatrics international (01-06-2010)Get full text
Journal Article -
18
Craniofacial abnormalities among patients with Edwards Syndrome
Published in Revista Paulista de Pediatria (01-09-2013)“…OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This…”
Get full text
Journal Article -
19
Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association
Published in São Paulo medical journal (2010)“…The association between fibular dimelia and mirror polydactyly of the foot is considered to be a very rare lower-limb abnormality. On the other hand, VACTERL…”
Get full text
Journal Article -
20
Screening for 22q11 deletion syndrome among patients with congenital heart defects
Published in São Paulo medical journal (2014)Get full text
Journal Article