Neuroblastoma in a patient with Sotos' syndrome.
نویسندگان
چکیده
Sotos' syndrome, or cerebral gigantism, is a disorder of growth regulation. Tumours have occasionally been reported in children with Sotos' syndrome, but it is uncertain whether this is a coincidence, or whether it is aetiologically related to the underlying disorder of growth. We report a 15 month old child with a paraspinal neuroblastoma and Sotos' syndrome and suggest that children with this condition may be at higher risk for developing tumours than the general population.
منابع مشابه
Neuroblastoma Associated with Bilateral Ptosis: Report of a Rare Condition
Neuroblastoma is a common tumor in pediatric cancer and which might present with usual or unusual clinical features. One of the rare clinical finding of neuroblastoma is paraneoplastic syndromes. We report a two year-old girl with presentation of bilateral ptosis and abdominal pain which was diagnosed as having neuroblastoma. Our case is a very rare case of neuroblastoma accompanied by bilat...
متن کاملSmall cell lung carcinoma in a patient with Sotos syndrome: are genes at 3p21 involved in both conditions?
A 22 year old female with Sotos syndrome and a small cell lung carcinoma is described. This case is of interest not only because of the somatic growth pattern, atypical of Sotos syndrome, but also because of the association with a rare tumour. Of significance is the possible role of mutations at 3p21 in the aetiology of Sotos syndrome and tumour development.
متن کاملA case of Sotos syndrome with 5q35 microdeletion and novel clinical findings.
Sotos syndrome is a multiple anomaly syndrome characterized by pre- and postnatal overgrowth with advanced bone age, macrocephaly, developmental delay, and distinctive facial phenotype. Autosomal dominant mutations and deletions of the nuclear receptor set domain gene (NSD1), which is located at chromosome 5q35, are responsible for most of the cases. We describe a six-year old boy who had tall ...
متن کاملFibroma of the left ventricle in a patient with Sotos syndrome.
Primary tumors of the heart are rare, with an incidence between 0.001% and 0.33% in autopsy findings, and with fibromas representing about 4% of benign cardiac tumors. We report the case of a cardiac fibroma in a 5-year-old child affected by Sotos syndrome. The mean sign was a ventricular tachycardia.
متن کاملSotos Syndrome
Sotos syndrome is an uncommon condition that affects approximately one in fourteen thousand of the population. Until recently, doctors would diagnose Sotos syndrome on the basis of several common features that include characteristic facial appearance, a degree of learning disability, increased head circumference and large stature. A sample of blood was often taken for genetic testing that could...
متن کاملذخیره 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 ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of medical genetics
دوره 27 2 شماره
صفحات -
تاریخ انتشار 1990