Results 111 to 120 of about 1,134,764 (129)
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PA05 A rare case of cardiocutaneous syndrome in a young child
British Journal of Dermatology, 2023Abstract A 19-month-old infant came to our attention showing clinical signs consistent with focal keratoderma limited to the palms and soles, dystrophic pachyonychia of all his nails and scalp alopecia characterized by sparse curly hair.
Susanna Marini, Ru Katugampola
openaire +1 more source
Klinische Wochenschrift, 1991
The case of a 50-year-old patient with hypertrophic obstructive cardiomyopathy is reported. The patient demonstrated somatic signs of the Turner phenotype, but a cytogenetically normal karyotype was shown. These findings were compatible with the diagnosis of Noonan syndrome.
G Pongratz
exaly +3 more sources
The case of a 50-year-old patient with hypertrophic obstructive cardiomyopathy is reported. The patient demonstrated somatic signs of the Turner phenotype, but a cytogenetically normal karyotype was shown. These findings were compatible with the diagnosis of Noonan syndrome.
G Pongratz
exaly +3 more sources
CARVAJAL SYNDROME : A RARE CARDIOCUTANEOUS SYNDROME
Journal of Evolution of Medical and Dental Sciences, 2015 Venkata Krishna A +3 more
exaly +2 more sources
Cell Communication and Adhesion, 2014
The classic cardiocutaneous syndromes of Naxos and Carvajal are rare. The myocardial disorder integral to their pathology - arrhythmogenic cardiomyopathy - is arguably not uncommon, with a prevalence of up to 1 in 1,000 despite almost certain under-recognition.
exaly +3 more sources
The classic cardiocutaneous syndromes of Naxos and Carvajal are rare. The myocardial disorder integral to their pathology - arrhythmogenic cardiomyopathy - is arguably not uncommon, with a prevalence of up to 1 in 1,000 despite almost certain under-recognition.
exaly +3 more sources
Review for "Novel PPP1R13L variant expands the phenotype of a rare cardiocutaneous syndrome"
2022+5 more sources
Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology, 2005
Naxos disease is a recessive association of arrhythmogenic right ventricular cardiomyopathy (ARVC) with wooly hair and palmoplantar keratoderma or similar skin disorder. The clinical and histopathological spectrum of heart disease, molecular genetics and genotype-phenotype correlation are reviewed in 22 affected families with this cardiocutaneous ...
Nikos, Protonotarios +1 more
openaire +1 more source
Naxos disease is a recessive association of arrhythmogenic right ventricular cardiomyopathy (ARVC) with wooly hair and palmoplantar keratoderma or similar skin disorder. The clinical and histopathological spectrum of heart disease, molecular genetics and genotype-phenotype correlation are reviewed in 22 affected families with this cardiocutaneous ...
Nikos, Protonotarios +1 more
openaire +1 more source
PO-04-014 A NOVEL HETEROZYGOUS DESMOPLAKIN VARIANT CAUSES CARDIOCUTANEOUS SYNDROME
Heart Rhythm, 2023Tolga C¸imen +8 more
openaire +1 more source
Novel PPP1R13L variant expands the phenotype of a rare cardiocutaneous syndrome
Clinical Genetics, 2022exaly