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Successful Management of a Patient With Jacobsen Syndrome and Hypoplastic Left Heart Syndrome
World Journal for Pediatric and Congenital Heart Surgery, 2019Jacobsen syndrome (JS) is a rare genetic condition characterized by intellectual disability, hematologic abnormalities, and congenital heart defects. A male infant presented at birth with phenotypic findings of JS and echocardiographic findings of hypoplastic left heart syndrome (HLHS). Array comparative genomic hybridization was performed at age three
Nicole L. Herrick +3 more
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A case of Jacobsen syndrome with multifocal white matter lesions
Clinical Imaging, 2016Jacobsen syndrome is a rare disorder caused by partial deletions of the long arm of chromosome 11. The phenotype is variable with involvement of multiple organ systems, resulting in congenital heart defects, blood dyscrasias, and impaired growth.
Fang Yu, John E. Carter, Carlos Bazan
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2014
Introduction: Jacobsen syndrome is a contiguous gene deletion syndrome caused by partial deletion of the long arm of chromosome 11. The characteristic features includes pre and postnatal growth retardation, psychomotor retardation, trigonocephaly, strabismus, epicanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip ...
KARAMAN, Ali, AYDIN, Hatip
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Introduction: Jacobsen syndrome is a contiguous gene deletion syndrome caused by partial deletion of the long arm of chromosome 11. The characteristic features includes pre and postnatal growth retardation, psychomotor retardation, trigonocephaly, strabismus, epicanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip ...
KARAMAN, Ali, AYDIN, Hatip
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Jacobsen syndrome: chromosome deletion at 11q23.
The Journal of the American Osteopathic Association, 1998A male infant delivered at term to unrelated parents was found to have multiple dysmorphic facial characteristics, abnormal head shape, anemia, thrombocytopenia, a prominent holosystolic heart murmur with multiple cardiac defects, hypotonia, and was small for his gestational age.
D R, Clang, R J, LaBaere
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[Jacobsen's syndrome, thrombopenia and humoral immunodeficiency].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 1999Clinical features of Jacobsen syndrome include facial dysmorphism, congenital heart defects, digit anomalies and mild to moderate psychomotor retardation. Thrombocytopenia or pancytopenia is observed in one half of patients.Two unrelated children, a 6-month- and a 12-year-old, presented with a moderate thrombocytopenia associated with the clinical ...
N, Sirvent +7 more
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Jacobsen Syndrome With Hypoplastic Left Heart Syndrome: Outcome After Cardiac Transplantation
Journal of Cardiovascular Development and Disease, 2023Antonio Amodeo +2 more
exaly
Surgical correction of trigonocephaly in Jacobsen syndrome
Annals of Oral and Maxillofacial Surgery, 2013LC Clauser, R Tieghi, G Consorti, G Elia
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Recurrent Pneumonia in a Child with Jacobsen Syndrome
A50. DIFFUSE AND ACUTE LUNG DISEASE - CASE REPORTS, 2022openaire +1 more source
Recent Progress in Lynch Syndrome and Other Familial Colorectal Cancer Syndromes
Ca-A Cancer Journal for Clinicians, 2018Patrick Boland +2 more
exaly