The Experts below are selected from a list of 1485 Experts worldwide ranked by ideXlab platform
Hidetoshi Kawashima - One of the best experts on this subject based on the ideXlab platform.
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optic disk pallor and retinal atrophy in Sotos Syndrome cerebral gigantism
American Journal of Ophthalmology, 2000Co-Authors: Kenji Inoue, Jiro Numaga, Masahiko Sakurai, Chika Ohara, Minami Ouchi, Tsutomu Iwata, Satoshi Kato, Hidetoshi KawashimaAbstract:PURPOSE: To report a case of Sotos Syndrome (cerebral gigantism) with megalophthalmos, optic disk pallor, and retinal atrophy. METHODS: Case report. RESULTS: A 22-year-old man was diagnosed with Sotos Syndrome with optic atrophy. His corneal diameters were 13 mm horizontally, and his optic disks were pale. His retinal vessels were attenuate in diameter, and small white spots were found on the retina. The results of a Goldmann visual field test were normal. His visually evoked potential to flash stimuli showed extended latent times and normal amplitudes. Keratometry was 40.5 diopters (8.33 mm) in both eyes. The axial length was 25.9 mm in the right eye and 25.4 mm in the left eye. CONCLUSION: Sotos Syndrome may be associated with optic disk pallor and retinal atrophy.
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optic disk pallor and retinal atrophy in Sotos Syndrome cerebral gigantism
American Journal of Ophthalmology, 2000Co-Authors: Kenji Inoue, Jiro Numaga, Masahiko Sakurai, Chika Ohara, Minami Ouchi, Tsutomu Iwata, Satoshi Kato, Hidetoshi KawashimaAbstract:PURPOSE: To report a case of Sotos Syndrome (cerebral gigantism) with megalophthalmos, optic disk pallor, and retinal atrophy. METHODS: Case report. RESULTS: A 22-year-old man was diagnosed with Sotos Syndrome with optic atrophy. His corneal diameters were 13 mm horizontally, and his optic disks were pale. His retinal vessels were attenuate in diameter, and small white spots were found on the retina. The results of a Goldmann visual field test were normal. His visually evoked potential to flash stimuli showed extended latent times and normal amplitudes. Keratometry was 40.5 diopters (8.33 mm) in both eyes. The axial length was 25.9 mm in the right eye and 25.4 mm in the left eye. CONCLUSION: Sotos Syndrome may be associated with optic disk pallor and retinal atrophy.
Ingrid Winship - One of the best experts on this subject based on the ideXlab platform.
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Sotos Syndrome ― autosomal dominant inheritance substantiated
Clinical genetics, 2008Co-Authors: Ingrid WinshipAbstract:Sotos Syndrome, or Cerebral Gigantism is recognised as the syndromic association of mental retardation, macrocephaly and prenatal onset of accelerated growth. A kindred has been investigated in which the father and 4 affected offspring all have the Sotos Syndrome. Autosomal dominant inheritance has been postulated in the past, and the family conform to this genetic pattern.
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Sotos Syndrome autosomal dominant inheritance substantiated
Clinical Genetics, 2008Co-Authors: Ingrid WinshipAbstract:Sotos Syndrome, or Cerebral Gigantism is recognised as the syndromic association of mental retardation, macrocephaly and prenatal onset of accelerated growth. A kindred has been investigated in which the father and 4 affected offspring all have the Sotos Syndrome. Autosomal dominant inheritance has been postulated in the past, and the family conform to this genetic pattern.
Kenji Inoue - One of the best experts on this subject based on the ideXlab platform.
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optic disk pallor and retinal atrophy in Sotos Syndrome cerebral gigantism
American Journal of Ophthalmology, 2000Co-Authors: Kenji Inoue, Jiro Numaga, Masahiko Sakurai, Chika Ohara, Minami Ouchi, Tsutomu Iwata, Satoshi Kato, Hidetoshi KawashimaAbstract:PURPOSE: To report a case of Sotos Syndrome (cerebral gigantism) with megalophthalmos, optic disk pallor, and retinal atrophy. METHODS: Case report. RESULTS: A 22-year-old man was diagnosed with Sotos Syndrome with optic atrophy. His corneal diameters were 13 mm horizontally, and his optic disks were pale. His retinal vessels were attenuate in diameter, and small white spots were found on the retina. The results of a Goldmann visual field test were normal. His visually evoked potential to flash stimuli showed extended latent times and normal amplitudes. Keratometry was 40.5 diopters (8.33 mm) in both eyes. The axial length was 25.9 mm in the right eye and 25.4 mm in the left eye. CONCLUSION: Sotos Syndrome may be associated with optic disk pallor and retinal atrophy.
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optic disk pallor and retinal atrophy in Sotos Syndrome cerebral gigantism
American Journal of Ophthalmology, 2000Co-Authors: Kenji Inoue, Jiro Numaga, Masahiko Sakurai, Chika Ohara, Minami Ouchi, Tsutomu Iwata, Satoshi Kato, Hidetoshi KawashimaAbstract:PURPOSE: To report a case of Sotos Syndrome (cerebral gigantism) with megalophthalmos, optic disk pallor, and retinal atrophy. METHODS: Case report. RESULTS: A 22-year-old man was diagnosed with Sotos Syndrome with optic atrophy. His corneal diameters were 13 mm horizontally, and his optic disks were pale. His retinal vessels were attenuate in diameter, and small white spots were found on the retina. The results of a Goldmann visual field test were normal. His visually evoked potential to flash stimuli showed extended latent times and normal amplitudes. Keratometry was 40.5 diopters (8.33 mm) in both eyes. The axial length was 25.9 mm in the right eye and 25.4 mm in the left eye. CONCLUSION: Sotos Syndrome may be associated with optic disk pallor and retinal atrophy.
Nazneen Rahman - One of the best experts on this subject based on the ideXlab platform.
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Sotos Syndrome
European Journal of Human Genetics, 2007Co-Authors: Katrina Tatton-brown, Nazneen RahmanAbstract:Sotos Syndrome is an autosomal dominant condition characterised by a distinctive facial appearance, learning disability and overgrowth resulting in tall stature and macrocephaly. In 2002, Sotos Syndrome was shown to be caused by mutations and deletions of NSD1 , which encodes a histone methyltransferase implicated in chromatin regulation. More recently, the NSD1 mutational spectrum has been defined, the phenotype of Sotos Syndrome clarified and diagnostic and management guidelines developed.
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Features of NSD1-positive Sotos Syndrome.
2004Co-Authors: Katrina Tatton-brown, Nazneen RahmanAbstract:Features of NSD1-positive Sotos Syndrome It is 40 years since the first case of Sotos Syndrome was reported. For most of the past four decades the diagnosis of Sotos Syndrome has been dependent on the subjective evaluation of clinical criteria, primarily whether the facial gestalt is present. The recent identification of NSD1 (Nuclear receptor- binding SET domain containing protein) mutations and deletions in the great majority of Sotos Syndrome cases has allowed re- evaluation of defining and associated features of the condition. In this review we will present the clinical features of Sotos Syndrome cases with proven abnormalities in NSD1. This has allowed redefinition of Sotos Syndrome as a condition characterised by a typical facial gestalt, macrocephaly and learning difficulties. Childhood overgrowth, advanced bone age, cardiac and genitourinary anomalies, neonatal jaundice, neonatal hypotonia, seizures and scoliosis are all fairly common in children with Sotos Syndrome. A mutation or microdeletion of NSD1 is diagnostic of Sotos Syndrome. (C) 2004 Lippincott Williams Wilkins.
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Clinical features of NSD1-positive Sotos Syndrome.
Clinical dysmorphology, 2004Co-Authors: Katrina Tatton-brown, Nazneen RahmanAbstract:It is 40 years since the first case of Sotos Syndrome was reported. For most of the past four decades the diagnosis of Sotos Syndrome has been dependent on the subjective evaluation of clinical criteria, primarily whether the facial gestalt is present. The recent identification of NSD1 (Nuclear receptor-binding SET domain containing protein) mutations and deletions in the great majority of Sotos Syndrome cases has allowed re-evaluation of defining and associated features of the condition. In this review we will present the clinical features of Sotos Syndrome cases with proven abnormalities in NSD1. This has allowed redefinition of Sotos Syndrome as a condition characterised by a typical facial gestalt, macrocephaly and learning difficulties. Childhood overgrowth, advanced bone age, cardiac and genitourinary anomalies, neonatal jaundice, neonatal hypotonia, seizures and scoliosis are all fairly common in children with Sotos Syndrome. A mutation or microdeletion of NSD1 is diagnostic of Sotos Syndrome.
Tsutomu Iwata - One of the best experts on this subject based on the ideXlab platform.
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optic disk pallor and retinal atrophy in Sotos Syndrome cerebral gigantism
American Journal of Ophthalmology, 2000Co-Authors: Kenji Inoue, Jiro Numaga, Masahiko Sakurai, Chika Ohara, Minami Ouchi, Tsutomu Iwata, Satoshi Kato, Hidetoshi KawashimaAbstract:PURPOSE: To report a case of Sotos Syndrome (cerebral gigantism) with megalophthalmos, optic disk pallor, and retinal atrophy. METHODS: Case report. RESULTS: A 22-year-old man was diagnosed with Sotos Syndrome with optic atrophy. His corneal diameters were 13 mm horizontally, and his optic disks were pale. His retinal vessels were attenuate in diameter, and small white spots were found on the retina. The results of a Goldmann visual field test were normal. His visually evoked potential to flash stimuli showed extended latent times and normal amplitudes. Keratometry was 40.5 diopters (8.33 mm) in both eyes. The axial length was 25.9 mm in the right eye and 25.4 mm in the left eye. CONCLUSION: Sotos Syndrome may be associated with optic disk pallor and retinal atrophy.
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optic disk pallor and retinal atrophy in Sotos Syndrome cerebral gigantism
American Journal of Ophthalmology, 2000Co-Authors: Kenji Inoue, Jiro Numaga, Masahiko Sakurai, Chika Ohara, Minami Ouchi, Tsutomu Iwata, Satoshi Kato, Hidetoshi KawashimaAbstract:PURPOSE: To report a case of Sotos Syndrome (cerebral gigantism) with megalophthalmos, optic disk pallor, and retinal atrophy. METHODS: Case report. RESULTS: A 22-year-old man was diagnosed with Sotos Syndrome with optic atrophy. His corneal diameters were 13 mm horizontally, and his optic disks were pale. His retinal vessels were attenuate in diameter, and small white spots were found on the retina. The results of a Goldmann visual field test were normal. His visually evoked potential to flash stimuli showed extended latent times and normal amplitudes. Keratometry was 40.5 diopters (8.33 mm) in both eyes. The axial length was 25.9 mm in the right eye and 25.4 mm in the left eye. CONCLUSION: Sotos Syndrome may be associated with optic disk pallor and retinal atrophy.
