Cases reported "Abnormalities, Multiple"

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1/35. child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype.

    We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis), submucosal cleft palate, hypernasal speech, learning difficulties, and right fifth finger anomaly manifestations, consistent with velocardiofacial syndrome (VCFS); however, cytogenetic analysis demonstrated a small terminal deletion of the segment 4q34.2 to 4qter. Fluorescent in situ hybridization did not identify a deletion of the critical region associated with VCFS. In previously reported 4q deletions with a breakpoint distal to 4q34.2, no cardiac defects or cleft of palate were reported. Our patient has a deletion of 4q34.2 to 4qter and has palate and cardiac involvement and minor learning difficulties, which implies that genes involved in heart and palate development lie distal to 4q34.2, and that the critical region for more severe mental retardation on 4q may reside proximal to 4q34.2. These results suggest that a distal 4q deletion can lead to a phenotype similar to VCFS and emphasizes the importance of searching for other karyotype abnormalities when a VCFS-like phenotype is present and a 22q deletion is not identified.
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keywords = velocardiofacial syndrome, velocardiofacial
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2/35. musculoskeletal abnormalities in velocardiofacial syndrome.

    This is the first case report detailing the musculoskeletal pathology and treatment ramifications associated with velocardiofacial syndrome. Orthopaedic manifestations include scoliosis, clubfoot, Sprengel's deformity, generalized ligamentous laxity that is especially problematic about the knee, and epiphyseal dysplasia that is most notable in the lateral humeral condyle, lateral femoral condyle, and femoral head.
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ranking = 0.55555555555556
keywords = velocardiofacial syndrome, velocardiofacial
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3/35. CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11.

    CATCH 22 is a medical acronym for Cardiac defects, Abnormal facies, Thymic hypoplasia, cleft palate, and hypocalcemia, and a variable deletion on chromosome 22. The deletion within the chromosome region of 22q11 may occur in patients with three well-described dysmorphologic cardiological syndromes: digeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face syndrome (CTAFS). We report in detail seven infants with a deletion of the locus 22q11 showing overlapping clinical features of DGS and CTAFS with complex congenital heart defects (double outlet right ventricle, atresia or stenosis of the pulmonary valve, atrial and ventricular septal defects, patent ductus arteriosus, tetralogy of fallot, major aortopulmonary collateral arteries, arcus aortae dexter, and persistence of the left superior vena cava). A homograft was implanted between the right ventricle and the main stem of the pulmonary artery in 2 patients, while a balloon valvuloplastic of the pulmonary valve was performed in one patient only. Pulmonary hemorrhage, acute hypoxia, and aspergillus pneumonia were the complications. death occurred in three out of seven patients. Recent advancements in the genetic knowledge of the locus 22q11 are described. Since the locus 22q11 is highly heterogeneous, the CATCH 22 acronym should be used and temporarily the old eponyms should be abandoned waiting for the identification of the different genes.
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keywords = velocardiofacial syndrome, velocardiofacial
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4/35. Agenesis of the corpus callosum associated with DiGeorge-velocardiofacial syndrome: a case report and review of the literature.

    We report a patient with clinical and cytogenetic findings consistent with DiGeorge-velocardiofacial syndrome and agenesis of the corpus callosum. This patient represents the first report of a case of DiGeorge-velocardiofacial syndrome associated with such a central nervous system abnormality. This case, together with previous reports in the literature, suggests that structural brain abnormalities, and in particular abnormalities of the corpus callosum, are part of the complex syndrome associated with the chromosomal microdeletion 22q11.2. We suggest that the diagnosis of DiGeorge-velocardiofacial syndrome be entertained in patients with agenesis of the corpus callosum in the context of other common clinical features of this syndrome.
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ranking = 0.77777777777778
keywords = velocardiofacial syndrome, velocardiofacial
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5/35. Velocardiofacial syndrome in childhood-onset schizophrenia.

    OBJECTIVES: Deletion of chromosome 22q11 (velocardiofacial syndrome) is associated with early neurodevelopmental abnormalities and with schizophrenia in adults. The rate of 22q11 deletions was examined in a series of patients with childhood-onset schizophrenia (COS), in whom early premorbid developmental and cognitive impairments are more pronounced than in adult-onset cases. METHOD: Through extensive recruiting and screening, a cohort of 47 patients was enrolled in a comprehensive study of very-early-onset schizophrenia. All were tested with fluorescence in situ hybridization for deletions on chromosome 22q11. RESULTS: Three (6.4%) of 47 patients were found to have a 22q11 deletion. All 3 COS patients with 22q11 deletions had premorbid impairments of language, motor, and social development, although their physical characteristics varied. brain magnetic resonance imaging revealed increased midbody corpus callosum area and ventricular volume in relation both to healthy controls and to other COS patients. CONCLUSIONS: The rate of 22q11 deletions in COS is higher than in the general population (0.025%, p < .001) and may be higher than reported for adult-onset schizophrenia (2.0%, p = .09). These results suggest that 22q11 deletions may be associated with an earlier age of onset of schizophrenia, possibly mediated by a more salient neurodevelopmental disruption.
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ranking = 0.11111111111111
keywords = velocardiofacial syndrome, velocardiofacial
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6/35. Type I diabetes mellitus in a patient with chromosome 22q11.2 deletion syndrome.

    We describe a patient with type I diabetes, clinical findings consistent with velocardiofacial syndrome, and a chromosome 22q11.2 deletion. A nine-year-old boy presented with a history of polyuria, polydipsia, weight loss, hyperglycemia, ketosis, serum insulin antibodies, and a low c-peptide level. He had distinctive facial features, learning disabilities, short stature, and a history of glottic web and clubfoot. Although a normal karyotype was obtained, fluorescence in situ hybridization (FISH) revealed a submicroscopic deletion in the DiGeorge/velocardiofacial syndrome critical region at 22q11.2. His maternal half-brother also carried a chromosome 22q11.2 deletion. His mother has similar facial features and hypoparathyroidism. Autoimmune problems associated with chromosome 22q11.2 deletions have been reported. We suggest that the defects in immune regulation due to T-cell deficiency in chromosome 22q11.2 deletion syndrome may predispose to autoimmune disorders, including type I diabetes mellitus.
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ranking = 0.22222222222222
keywords = velocardiofacial syndrome, velocardiofacial
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7/35. digeorge syndrome associated with left lung aplasia.

    We report a patient with clinical and cytogenetic findings consistent with DiGeorge-velocardiofacial syndrome and aplasia of the left lung. To the best of our knowledge, this is the first reported case of DiGeorge-velocardiofacial syndrome associated with unilateral lung aplasia. gadolinium enhanced three-dimensional magnetic resonance angiography demonstrated associated right-sided aortic arch and left pulmonary artery agenesis.
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ranking = 0.22222222222222
keywords = velocardiofacial syndrome, velocardiofacial
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8/35. Benign idiopathic partial seizures in the velocardiofacial syndrome: report of two cases.

    We describe two children with the velocardiofacial syndrome and benign partial-onset seizures. Both presented with slight dysmorphic traits, mild to moderate mental delay, and high-arched palate. A cardiac defect was present in only one of them. In each patient, sporadic rolandic or occipital partial-onset seizures with the clinical and electroencephalographic features of benign idiopathic childhood epilepsy manifested at age 3 and 5 years, respectively. Treatment was started only in one patient, with complete seizure control. These two cases show that benign partial epilepsy can be a component manifestation of the central nervous system-related symptoms of the velocardiofacial syndrome.
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keywords = velocardiofacial syndrome, velocardiofacial
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9/35. Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome).

    Chromosome 22q11 deletion (CATCH 22 syndrome or velocardiofacial syndrome) is one of the most frequent chromosomal syndromes. Neurological features other than cognitive disorders are probably the least-described part of the expanding phenotype of the 22q11 deletion. We report the neurological features of three unrelated children with a de novo deletion: one patient with an autistic disorder, a second patient with hypocalcaemic neonatal seizures and unusual persistent epileptic focus at electroencephalographic follow-up, and a third patient with atypical absence epilepsy. These observations enlarge the clinical and neurological spectrum of the 22q11 deletion. awareness of such cases is necessary, and a diagnosis of the 22q11 deletion should be suspected in children with common neurological features associated with severe or mild dysmorphism. diagnosis of the 22q11 deletion should be confirmed by fluorescence in situ hybridization analysis associated with standard chromosomal analysis.
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ranking = 0.11111111111111
keywords = velocardiofacial syndrome, velocardiofacial
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10/35. CATCH 22 Syndrome.

    CATCH 22 syndrome is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and hypocalcemia. It results from a deletion within chromosome 22q11. This syndrome is not a simple disease. It includes digeorge syndrome, conotruncal anomaly face syndrome, and velocardiofacial syndrome. The authors report two cases of CATCH 22 syndrome.
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ranking = 0.11111111111111
keywords = velocardiofacial syndrome, velocardiofacial
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