Velocardiofacial syndrome.
نویسنده
چکیده
Velocardiofacial syndrome is one of the most common multiple-anomaly syndromes in humans. With its many otolaryngologic manifestations and its almost ubiquitous effects on speech, language, hearing, immune dysfunction, and airway problems, velocardiofacial syndrome may be the most common genetic disorder seen by pediatric otolaryngologists. Individuals affected with velocardiofacial syndrome look essentially normal making identification of the syndrome difficult, especially in infants. It is critical for otolaryngologists to be familiar with the symptom complex associated with velocardiofacial syndrome so as to understand the unique manifestations of this complex disorder.
منابع مشابه
Investigation of white matter structure in velocardiofacial syndrome: a diffusion tensor imaging study.
OBJECTIVE Velocardiofacial syndrome, caused by a deletion on chromosome 22q11.2, is often accompanied by cognitive, behavioral, and psychiatric impairments. Specifically, velocardiofacial syndrome has been proposed as a disease model for a genetically mediated subtype of schizophrenia. Velocardiofacial syndrome is also known to affect brain structure. The most prominent structural findings in v...
متن کاملChildren and adolescents with velocardiofacial syndrome: a volumetric MRI study.
OBJECTIVE Velocardiofacial syndrome is a common genetic condition often accompanied by mild cognitive impairment. Children and adolescents with velocardiofacial syndrome also are at greater risk for developing serious neuropsychiatric disorders in adulthood, particularly schizophrenia-like disorders. The purpose of this preliminary study was to 1) elucidate through brain imaging the neurobiolog...
متن کاملVelocardiofacial syndrome: are structural changes in the temporal and mesial temporal regions related to schizophrenia?
OBJECTIVE Velocardiofacial syndrome results from a microdeletion on chromosome 22 (22q11.2). Clinical studies indicate that more than 30% of children with the syndrome will develop schizophrenia. The authors sought to determine whether neuroanatomical features in velocardiofacial syndrome are similar to those reported in the literature on schizophrenia by measuring the volumes of the temporal l...
متن کاملBrain anatomy in adults with velocardiofacial syndrome with and without schizophrenia: preliminary results of a structural magnetic resonance imaging study.
CONTEXT Velocardiofacial syndrome is associated with interstitial deletions of chromosome 22q11, mild to borderline learning disability, characteristic dysmorphology, and a high prevalence of schizophrenia. The biological basis for this increased risk for schizophrenia is unknown, but people with velocardiofacial syndrome may have genetically determined differences in brain anatomy that predisp...
متن کاملMedial displacement of the internal carotid arteries in velocardiofacial syndrome.
• Vol 7 • November 2005 Velocardiofacial Syndrome A 19 month old baby presented with gradually developing respiratory distress and stridor. Episodes of cyanosis during feeding started immediately after birth, accompanied by a weak cry. Fiberoptic pharyngolaryngoscopic examination revealed prominent pulsations along the posterior pharyngeal wall, and severe subglottic stenosis. Computed tomograp...
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ورودعنوان ژورنال:
- Current opinion in pediatrics
دوره 17 6 شماره
صفحات -
تاریخ انتشار 2000