A child with an STK11 mutation and Sotos syndrome-like features: can STK11 mutations produce a Sotos syndrome phenocopy?
نویسندگان
چکیده
منابع مشابه
Sotos 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 کاملSotos syndrome
Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessiv...
متن کاملSotos syndrome.
In 1964 Sotos et all described five children with (1) large body size and early accelerated growth, (2) acromegaloid features, (3) advanced bone age, and (4) developmental delay and a non-progressive neurological disorder. Since this report over 200 further cases have been described, many with additional observations. Inclusion of new features into the clinical spectrum of Sotos syndrome has ma...
متن کاملNeuroblastoma in a patient with Sotos' syndrome.
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...
متن کاملSotos syndrome; an endocrine and neurological maze.
Sotos syndrome is characterised by rapid growth in the first few years of life with advanced bone age, ultimate adult height being variable, with some cases having attained gigantic proportions. In addition these patients have a variable degree of mental retardation, behavioral problems, characteristic dysmorphic features, large hands and feet and motor clumsiness. We report a case of Sotos syn...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Case Reports
سال: 2011
ISSN: 1757-790X
DOI: 10.1136/bcr.07.2011.4445