A case of Sotos syndrome with various oral symptoms
نویسندگان
چکیده
Sotos syndrome is a genetic disorder characterized by overgrowth, megalocephaly, and mental retardation due to mutations or deletions in the nuclear receptor binding SET Domain protein 1 (NSD1) gene. We report case of with various oral symptoms.
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 – Case report of a rare genetic disorder
Sotos syndrome is a congenital disorder that is characterised by pre and post natal overgrowth, mental retardation of variable degree, advanced bone age, and distinctive craniofacial features like macrocephaly frontal bossing and high hair line. Recently several reports have presented that haploinsufficiency of the gene for NSD1 (the nuclear-receptor-binding SET-domain-containing protein 1) at ...
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ژورنال
عنوان ژورنال: Japanese Journal of Oral and Maxillofacial Surgery
سال: 2023
ISSN: ['0021-5163', '2186-1579']
DOI: https://doi.org/10.5794/jjoms.69.22