Cardiac valve disease: An unreported feature in Ehlers Danlos syndrome arthrocalasia type?

Italian Journal of Pediatrics

Volumn 38, Issue 1, 2012, Pages

  Melis, Daniela ^a   Cappuccio, Gerarda ^a   Ginocchio, Virginia Maria ^a   Minopoli, Giorgia ^a   Valli, Maurizia ^b   Corradi, Massimiliano ^c   Andria, Generoso ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c UNIVERSITY OF VERONA   (Italy)

Author keywords

Cardiac valve regurgitation; Ehlers Danlos syndrome type VII B; Macrocephaly

Indexed keywords

COLLAGEN TYPE 1; PROCOLLAGEN;

ANTERIOR FONTANEL; AORTA; AORTA VALVE REGURGITATION; APGAR SCORE; ARTHROCALASIA; ARTICLE; BIRTH WEIGHT; BODY HEIGHT; BODY SURFACE; CAPILLARY RESISTANCE; CASE REPORT; CESAREAN SECTION; CHEMICAL ANALYSIS; CHILD; COL1A2 GENE; CONSANGUINEOUS MARRIAGE; ECHOCARDIOGRAPHY; EHLERS DANLOS SYNDROME; ELECTROPHORESIS; FACE DYSMORPHIA; FEMALE; FOLLOW UP; FRONTAL BOSSING; GENE; GENE MUTATION; GENETIC SCREENING; GESTATIONAL AGE; HALLUX VALGUS; HEAD CIRCUMFERENCE; HEART ATRIUM SEPTUM DEFECT; HEART LEFT VENTRICLE EJECTION FRACTION; HEART LEFT VENTRICLE MASS; HEART VENTRICLE SIZE; HIGH ARCHED PALATE; HIP DISLOCATION; HIP DYSPLASIA; HUMAN; JOINT LAXITY; LOW SET EAR; MACROCEPHALY; MITRAL VALVE REGURGITATION; MOLECULAR DIAGNOSIS; MUSCLE HYPOTONIA; PATELLA DISLOCATION; PHENOTYPE; POSTERIOR FONTANEL; SCHOOL CHILD; SKIN BIOPSY; SYSTOLIC HEART MURMUR; TRANSTHORACIC ECHOCARDIOGRAPHY; TRICUSPID VALVE REGURGITATION; VALGUS DEFORMITY;

AORTIC VALVE INSUFFICIENCY; CHILD; COLLAGEN TYPE I; DIAGNOSIS, DIFFERENTIAL; EHLERS-DANLOS SYNDROME; ENZYME INHIBITORS; EXONS; FEMALE; FOLLOW-UP STUDIES; HUMANS; JOINT INSTABILITY; MITRAL VALVE INSUFFICIENCY; MUTATION; PHENOTYPE; SKIN ABNORMALITIES; TRICUSPID VALVE INSUFFICIENCY;

EID: 84872372716     PISSN: 17208424     EISSN: 18247288     Source Type: Journal    
DOI: 10.1186/1824-7288-38-65     Document Type: Article

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