Cases reported "Heart Defects, Congenital"

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1/34. 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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2/34. 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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ranking = 0.11111111111111
keywords = velocardiofacial syndrome, velocardiofacial
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3/34. 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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4/34. Velocardiofacial syndrome associated with atrophy of the shoulder girdle muscles and cervicomedullary narrowing.

    Velocardiofacial syndrome is the most common microdeletion syndrome in humans. It is secondary to a chromosome 22q11 rearrangement and is characterized by craniofacial abnormalities, heart defects and learning disability. We report a case of a 10-year-old girl with a chromosome 22q11 deletion who, in addition to learning difficulties, hypernasal speech and mild dysmorphic features, had weakness and wasting of the shoulder girdle muscles but no cardiac involvement. brain magnetic resonance imaging revealed narrowing of the cervicomedullary junction. The clinical features of this patient with velocardiofacial syndrome further expand the spectrum of abnormalities associated with this condition.
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ranking = 0.11111111111111
keywords = velocardiofacial syndrome, velocardiofacial
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5/34. Chiari malformation, cervical spine anomalies, and neurologic deficits in velocardiofacial syndrome.

    The purpose of this investigation was to evaluate the prevalence of Chiari malformation, cervical spine anomalies, and neurologic deficits in patients with velocardio-facial syndrome. This study was a prospective evaluation of 41 consecutive patients with velocardiofacial syndrome, documented by fluorescence in situ hybridization, between March of 1994 and September of 1998. The 23 girls and 18 boys ranged in age from 0.5 to 15.2 years, with a mean age of 6.7 years. Nineteen patients were assessed with magnetic resonance imaging, 39 underwent lateral cephalometric radiography, and all patients were examined for neurologic deficits. Eight of 19 patients (42 percent) had anomalies of the craniovertebral junction, including Chiari type I malformations (n = 4), occipitalization of the atlas (n = 3), and narrowing of the foramen magnum (n = 1). One patient with Chiari malformation required suboccipital craniectomy with laminectomy and decompression. Fourteen of 41 patients (34 percent) had demonstrated neurologic deficits; 10 patients (24 percent) had velar paresis (6 unilateral and 4 bilateral). Chiari malformations, cervical spine anomalies, and neurologic deficits are common in velocardiofacial syndrome. Because these findings may influence the outcome of surgical intervention, routine assessment of patients with velocardiofacial syndrome should include careful orofacial examination, lateral cephalometric radiography, and magnetic resonance imaging of the craniovertebral junction.
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ranking = 0.77777777777778
keywords = velocardiofacial syndrome, velocardiofacial
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6/34. Complex conotruncal heart defect, severe bleeding disorder and 22q11 deletion: a new case of bernard-soulier syndrome and of 22q11 deletion syndrome?

    A patient with a deletion in the DiGeorge/velocardiofacial chromosomal region in 22q11, underwent cardiac repair for truncus arteriosus with a separate origin of the pulmonary arteries. This patient presented with a severe coagulation disorder similar to that described in the bernard-soulier syndrome. Additional features included minor facial anomalies, transient hypocalcemia and renal failure. To the best of our knowledge, this is the third case of a severe bleeding disorder associated with 22q 11 deletion reported in the literature.
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ranking = 0.034030935350562
keywords = velocardiofacial
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7/34. 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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ranking = 0.66666666666667
keywords = velocardiofacial syndrome, velocardiofacial
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8/34. Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome.

    Deletions of chromosome 22q11.2 are recognized as the main cause of a number of clinical phenotypes, including velocardiofacial syndrome (VCFS) and digeorge syndrome (DGS). Velocardiofacial syndrome is a relatively common developmental disorder that is characterized by craniofacial anomalies and conotruncal heart defects. Most 22q11.2 deletions occur sporadically, although the deletion may be transmitted in some cases. The present performed a molecular analysis in one family including a patient with clinical diagnosis of VCFS and his sister with a suggestive phenotype. Six polymorphic 22q11.2 markers (i.e. D22S420, D22S264, D22S941, D22S306, D22S425 and D22S257) were used for genotype analysis of the dna from the patients and unaffected relatives. The results revealed a 22q11.2 deletion in the patient and his sister from one of six markers (i.e. D22S941). genotype analysis demonstrated that the deletion in this sib was of maternal origin. The results suggest that the mother probably has gonadal mosaicism. The other relatives present normal dna profiles for all markers. These results have implications for genetic counseling because of a risk of transmission by germ cells carrying the deletion, even when parents present with a normal dna profile in their blood cells.
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ranking = 0.55555555555556
keywords = velocardiofacial syndrome, velocardiofacial
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9/34. 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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10/34. Pulmonary agenesis: expansion of the VCFS phenotype.

    In this report, we describe a child with the typical craniofacial manifestations of velocardiofacial syndrome (VCFS), a 22q11.2 deletion, and unilateral pulmonary agenesis. The 22q11.2 deletion syndromes are associated with malformations presumed to be caused by a disruption of cephalic neural crest cell migration during the fourth week of embryonic development. We suggest that the pulmonary agenesis seen in this case is related to a disruption of the dorsal aortic arch development that selectively interfered with lung bud growth. We suggest that pulmonary agenesis should be considered part of the spectrum of malformations seen in 22q11.2 deletion.
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ranking = 0.11111111111111
keywords = velocardiofacial syndrome, velocardiofacial
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