Agenesis of the corpus callosum in two brothers.

نویسندگان

  • W G Wilson
  • J M Kennaugh
  • J P Kugler
  • J F Reynolds
چکیده

Two brothers with developmental delay and unusual cranial configurations were found to have agenesis of the corpus callosum (ACC) by CT scan. Six published families in which ACC occurred in the absence of extracranial malformations are reviewed. No single mode of inheritance can account for all of these familial cases. This family illustrates the value of CT scanning in evaluating children with developmental delay.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

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...

متن کامل

Fiber 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 کامل

X-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report

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 کامل

Neurodevelopmental 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 کامل

Agenesis of the corpus callosum.

A father and son with agenesis of the corpus callosum are described. An 11-year-old boy underwent clinical examination because of poor school performance. On physical and mental examinations he was normal, except for an enlarged head. Computerized tomographic (CT) scan showed agenesis of the corpus callosum. The patient's father also had an enlarged head. Although he had never had any symptoms,...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Journal of medical genetics

دوره 20 6  شماره 

صفحات  -

تاریخ انتشار 1983