Cases reported "Hypocalcemia"

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1/4. 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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2/4. 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 = 1
keywords = velocardiofacial syndrome, velocardiofacial
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3/4. 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 = 1
keywords = velocardiofacial syndrome, velocardiofacial
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4/4. Di George anomaly and velocardiofacial syndrome.

    The velocardiofacial syndrome is an autosomal dominant disorder characterized by cleft palate, cardiac anomalies, characteristic facies, and learning disabilities. The Di George anomaly involves developmental defects of the third and fourth pharyngeal pouches, resulting in thymic and parathyroid hypoplasia and cardiac defects. The cases of individuals in two families help substantiate the notion that the Di George anomaly occurs as a feature of the velocardiofacial syndrome. The proband in family 1 was a male infant with persistent hypocalcemia and cardiac defects consisting of truncus arteriosus, atrial septal defect, ventricular septal defect, and abnormal aortic arch vessels. autopsy revealed absence of thymic and parathyroid tissue, and the Di George anomaly was diagnosed. His father had a submucous cleft palate, T cell dysfunction, and facial features consistent with the velocardiofacial syndrome. This is the third case of male-to-male transmission of velocardiofacial syndrome. The proband of family 2 was a 4-year-old girl with developmental delay, persistent neonatal hypocalcemia, ventricular septal defect, T cell dysfunction, and facial features of the velocardiofacial syndrome. The Di George anomaly has been reported to occur in at least 18 different disorders. The observation that the Di George anomaly is a component manifestation of the velocardiofacial syndrome in these two families provides further evidence that the Di George anomaly is not a distinct syndrome of a single origin but rather a heterogeneous developmental field defect. It is proposed that all previously reported cases of autosomal dominant Di George anomaly are examples of the velocardiofacial syndrome.
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ranking = 11
keywords = velocardiofacial syndrome, velocardiofacial
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