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1/7. 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 = 1
keywords = velocardiofacial syndrome, velocardiofacial
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2/7. 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 = 1.4
keywords = velocardiofacial syndrome, velocardiofacial
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3/7. Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.

    The evaluation of mental retardation is always a challenge to clinicians. The recognition of specific physical or behavioral characteristics can vastly improve diagnostic yield. Several genetic disorders have been identified to have certain behavioral characteristics, such as williams syndrome, smith-magenis syndrome, and the velocardiofacial syndrome (VCFS). The deletion affecting the chromosome 22q in the most distal band (22q13) appears to define yet another neurobehavioral phenotype. In addition to our report, there are about 17 other cases published of this particular deletion syndrome. We describe three children who share features of developmental delay and pervasive behaviors in addition to normal to advanced growth patterns. Results of cytogenetic analysis suggest that the 3 patients share a deletion affecting the terminal 22q13 region. Two were found to have a cryptic deletion, in the third it was detected by conventional cytogenetics. The cryptic deletions were demonstrated using fluorescent in situ hybridization (FISH), where the control probe for the DiGeorge/VCFS region was deleted. While there remain gaps in our understanding of this particular deletion syndrome, we propose that patients with normal or advanced growth, significantly delayed speech, deviant development and pervasive behaviors, with minor facial dysmorphism, be screened for this deletion.
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ranking = 0.2
keywords = velocardiofacial syndrome, velocardiofacial
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4/7. 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 = 0.2
keywords = velocardiofacial syndrome, velocardiofacial
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5/7. 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 = 0.2
keywords = velocardiofacial syndrome, velocardiofacial
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6/7. Specific language impairment in children with velocardiofacial syndrome: four case studies.

    OBJECTIVE: To describe specific language impairment in four children with velocardiofacial syndrome (VCFS). DESIGN: A descriptive, retrospective study of four cases. SETTING: University Hospital Groningen, tertiary clinical care. patients: Of 350 patients with cleft plate, 18 children were diagnosed with VCFS. Four children are described. Interventions: In all children, cardiac and plastic surgery was carried out in the first year of life. Afterward, interventions consisted of hearing improvement, pharyngoplasty, and speech therapy. MAIN OUTCOME: Inadequate and uncharacteristic development of articulation and expressive language in four children with VCFS were observed. They differed from the majority in two ways: their nonverbal IQ was in the normal range, and their language skills were below expectations for their IQ. RESULTS: Four of 18 patients with VCFS (22%) showed poor response to therapy and did not develop language in accordance with their normal learning abilities (nonverbal learning capacities and language comprehension). Persistent hypernasal resonance and severe articulation problems remained in all four children. In two children the expressive language profile was also not in agreement with the nonverbal profile: they produced only two- and three-word utterances at the age of 6.0 and 5.3 years. The other two children at the age of 6.8 and 6.4 years produced very long sentences, but they were unintelligible. CONCLUSIONS: The speech and language impairment of the four children may be characterized as a phonological or verbal programming deficit syndrome and as such can be described as a specific language impairment in conjunction with VCFS.
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ranking = 1
keywords = velocardiofacial syndrome, velocardiofacial
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7/7. Magnetic resonance angioplasty for prepharyngoplasty assessment in velocardiofacial syndrome.

    OBJECTIVE: The assessment of the posterior pharyngeal vasculature in velocardiofacial syndrome has been traditionally based on endoscopic visualization of pulsations or conventional angiography. This case report describes the utility of presurgical imaging with magnetic resonance angiography (MRA) prior to performing pharyngoplasty. CONCLUSION: The use of the MRA data presurgically is an effective way to prevent bleeding complications during pharyngoplasty.
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ranking = 1
keywords = velocardiofacial syndrome, velocardiofacial
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