P.050 Epilepsy phenotypes in patients with Sotos syndrome
نویسندگان
چکیده
منابع مشابه
Dentofacial growth in patients with Sotos syndrome.
Sotos syndrome is an overgrowth syndrome leading to peculiar facial characteristics, large hands and feet, and mental retardation. The maxillofacial characteristics are metopic protrusion, a high and narrow palate and a tapered mandible. In this study, we evaluated changes in maxillofacial growth in 2 patients with cerebral gigantism during the peripubertal period. Patient 1 was a boy aged 8 ye...
متن کاملEpilepsy and early-onset overgrowth syndrome revealing Sotos syndrome.
A 44-year-old woman presented with childhood-onset refractory complex partial seizures. Medical history revealed neonatal macrosomia and hypotonia, early-onset overgrowth in infancy, macrocephaly and mild intellectual disability. Examination revealed macrodolichocephaly with prominent forehead and facial dysmorphisms, scoliosis, large hands and arachnodactyly (Figure 1). Neuroimaging showed mac...
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 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...
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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 2019
ISSN: 0317-1671,2057-0155
DOI: 10.1017/cjn.2019.150