Sotos syndrome

[so´tōs] cerebral gigantism.

So·tos syn·drome

(sō'tōs), [MIM*117550] cerebral gigantism and generalized large muscles in childhood, with mental retardation and defective coordination; of unknown etiology. Most cases have been sporadic, perhaps new dominant mutations with low fitness, but there is one set of concordant identical twins on record.

So·tos syn·drome

Sotos syndrome

(sō′tōs′)n. A genetic disorder characterized by large size at birth and an accelerated growth rate in infancy and early childhood without a similar increase in serum growth hormone levels; it is marked by acromegalic features, developmental delay, and moderate intellectual disability.

NSD1

A gene on chromosome 5q35 that encodes a protein that enhances androgen receptor transactivation, especially in the presence of other androgen receptor-associated coregulators. NSD1 acts as a nucleus-localised, basic transcriptional factor and as a bifunctional transcriptional regulator.
Molecular pathology
NSD1 mutations cause Sotos syndrome and Weaver syndrome, as well as a form of childhood acute myeloid leukaemia with a cryptic translocation, with breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, trithorax domain protein 1 on chromosome 5 and nucleoporin 98-kD on chromosome 11.

Sotos syndrome

Cerebral gigantism An AD condition with rapid early somatic growth of neonatal onset, that is not accompanied by endocrinopathy, accelerated bone maturation, or precocious puberty Clinical Macrosomia, where growth is accelerated for the first 4-5 yrs of life, followed by a normal growth pattern, enlarged acral parts–hands and feet, thickened subcutaneous tissues, macrocephaly, mild mental retardation and perceptual defects; EEG abnormalities, dilated ventricles, dolichocephaly, antimongolic slanting of palpebral fissures, macrognathy, hypertelorism, convulsions, poor coordination, ↑ risk for CA–eg, Wilms' tumor, liver, parotid, ovarian CAs

So·tos syn·drome

(sō'tōs sin'drōm) Cerebral gigantism and generalized large muscles in childhood, with mental retardation and defective coordination; of unknown etiology.

Sotos,

Juan F., U.S. pediatrician, 1927–. Sotos syndrome - cerebral gigantism and generalized large muscles in childhood, with mental retardation and defective coordination.

So·tos syn·drome

(sō'tōs sin'drōm) [MIM*117550] Cerebral gigantism and generalized large muscles in childhood.

单词	sotos syndrome
释义	Sotos syndrome Sotos syndrome [so´tōs] cerebral gigantism. So·tos syn·drome (sō'tōs), [MIM117550] cerebral gigantism and generalized large muscles in childhood, with mental retardation and defective coordination; of unknown etiology. Most cases have been sporadic, perhaps new dominant mutations with low fitness, but there is one set of concordant identical twins on record. So·tos syn·drome (sō'tōs), [MIM117550] cerebral gigantism and generalized large muscles in childhood, with mental retardation and defective coordination; of unknown etiology. Most cases have been sporadic, perhaps new dominant mutations with low fitness, but there is one set of concordant identical twins on record. Sotos syndrome (sō′tōs′)n. A genetic disorder characterized by large size at birth and an accelerated growth rate in infancy and early childhood without a similar increase in serum growth hormone levels; it is marked by acromegalic features, developmental delay, and moderate intellectual disability. NSD1 A gene on chromosome 5q35 that encodes a protein that enhances androgen receptor transactivation, especially in the presence of other androgen receptor-associated coregulators. NSD1 acts as a nucleus-localised, basic transcriptional factor and as a bifunctional transcriptional regulator. Molecular pathology NSD1 mutations cause Sotos syndrome and Weaver syndrome, as well as a form of childhood acute myeloid leukaemia with a cryptic translocation, with breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, trithorax domain protein 1 on chromosome 5 and nucleoporin 98-kD on chromosome 11. Sotos syndrome Cerebral gigantism An AD condition with rapid early somatic growth of neonatal onset, that is not accompanied by endocrinopathy, accelerated bone maturation, or precocious puberty Clinical Macrosomia, where growth is accelerated for the first 4-5 yrs of life, followed by a normal growth pattern, enlarged acral parts–hands and feet, thickened subcutaneous tissues, macrocephaly, mild mental retardation and perceptual defects; EEG abnormalities, dilated ventricles, dolichocephaly, antimongolic slanting of palpebral fissures, macrognathy, hypertelorism, convulsions, poor coordination, ↑ risk for CA–eg, Wilms' tumor, liver, parotid, ovarian CAs So·tos syn·drome (sō'tōs sin'drōm) Cerebral gigantism and generalized large muscles in childhood, with mental retardation and defective coordination; of unknown etiology. Sotos, Juan F., U.S. pediatrician, 1927–. Sotos syndrome - cerebral gigantism and generalized large muscles in childhood, with mental retardation and defective coordination. So·tos syn·drome (sō'tōs sin'drōm) [MIM*117550] Cerebral gigantism and generalized large muscles in childhood.
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