DEFECT 11 syndrome associated with agenesis of the corpus callosum.
نویسندگان
چکیده
منابع مشابه
Large Sphenoethmoidal Encephalocele Associated with Agenesis of Corpus Callosum and Cleft Palate
Basal encephalocele is a rare craniofacial anomaly. In the present paper we report a 10-year-old boy presented with cleft palate, congenital nystagmus, and hypertelorism. During preoperative evaluation for cleft palate repair, a pulsatile mass was detected in the pharynx. Magnetic resonance imaging showed sphenoethmoidal type of basal encephalocele and agenesis of corpus callosum. Neurosurgical...
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Background: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder, in which patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. XLAG is responsible for a severe neurological disorder of neonatal onset in boys. A gyration defect con...
متن کاملFiber Tractography and Diffusion Tensor Imaging in Children with Agenesis and Dysgenesis of Corpus Callosum: A Clinico-Radiological Correlation
Background Corpus callosum is the largest commissure in human brain. It consists of tightly packed white matter tracts connecting the two cerebral hemispheres. In this study we aimed to evaluate role of fiber tractography (FT), and diffusion tensor imaging (DTI) in ped...
متن کاملNeurodevelopmental Outcome of Patients With Agenesis of Corpus Callosum
Background: Agenesis of Corpus Callosum (ACC) is a type of brain dysgenesis with various clinical manifestations. Objectives: This study aimed to investigate the clinical and neurodevelopmental outcomes of patients with ACC. Materials & Methods: In this cross-sectional study, the clinical and neurodevelopmental conditions of 62 patients with complete ACC referred to subspecialty clinics of pe...
متن کاملBart’s Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia
OBJECTIVE Bart's syndrome is defined as congenital localized absence of skin, and associated with epidermolysis bullosa. A newborn with Bart's syndrome is reported because it is a very rare condition, especially when associated with corpus callosum agenesis and concomitant choanal atresia. Clinically it is characterized by raw beefy areas of denuded skin mainly on hands and feet. We report a ra...
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عنوان ژورنال:
- Journal of medical genetics
دوره 38 2 شماره
صفحات -
تاریخ انتشار 2001