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David Webb - One of the best experts on this subject based on the ideXlab platform.
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bannayan riley ruvalcaba syndrome a cause of extreme Macrocephaly and neurodevelopmental delay
Archives of Disease in Childhood, 2009Co-Authors: N E Lynch, Sally Ann Lynch, J. Mcmenamin, David WebbAbstract:Background: Bannayan–Riley–Ruvalcaba syndrome (BRRS) is an autosomal dominant condition characterised by Macrocephaly, developmental delay and subtle cutaneous features. BRRS results from mutations in the PTEN gene. In adults, PTEN mutations cause Cowden syndrome where, in addition to the Macrocephaly, there is a higher risk of tumour development. Diagnosis of BRRS is often delayed as presentation can be variable, even within families. Aims: To identify characteristics of this condition which might facilitate early diagnosis. Prompt diagnosis not only avoids unnecessary investigations in the child but potentially identifies heterozygote parents who are at risk of tumour development. Methods and Results: Six children with a PTEN mutation were identified. All had extreme Macrocephaly. Four parents and a male sibling were found to have a PTEN mutation on subsequent testing. Affected parents had extreme Macrocephaly and a history of thyroid adenoma, or breast or skin lesions. All six children had presented to medical attention before the age of 2.5 years (3/6 were investigated as neonates), but the median age at diagnosis was 5 years. Four of the children had multiple investigations prior to identification of a PTEN mutation. Conclusion: BRRS should be considered in children with extreme Macrocephaly as it is the most consistent clinical feature seen, particularly where there is a family history of Macrocephaly.
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Bannayan–Riley–Ruvalcaba syndrome: a cause of extreme Macrocephaly and neurodevelopmental delay
Archives of Disease in Childhood, 2009Co-Authors: N E Lynch, Sally Ann Lynch, J. Mcmenamin, David WebbAbstract:Background: Bannayan–Riley–Ruvalcaba syndrome (BRRS) is an autosomal dominant condition characterised by Macrocephaly, developmental delay and subtle cutaneous features. BRRS results from mutations in the PTEN gene. In adults, PTEN mutations cause Cowden syndrome where, in addition to the Macrocephaly, there is a higher risk of tumour development. Diagnosis of BRRS is often delayed as presentation can be variable, even within families. Aims: To identify characteristics of this condition which might facilitate early diagnosis. Prompt diagnosis not only avoids unnecessary investigations in the child but potentially identifies heterozygote parents who are at risk of tumour development. Methods and Results: Six children with a PTEN mutation were identified. All had extreme Macrocephaly. Four parents and a male sibling were found to have a PTEN mutation on subsequent testing. Affected parents had extreme Macrocephaly and a history of thyroid adenoma, or breast or skin lesions. All six children had presented to medical attention before the age of 2.5 years (3/6 were investigated as neonates), but the median age at diagnosis was 5 years. Four of the children had multiple investigations prior to identification of a PTEN mutation. Conclusion: BRRS should be considered in children with extreme Macrocephaly as it is the most consistent clinical feature seen, particularly where there is a family history of Macrocephaly.
Jeremy M Silverman - One of the best experts on this subject based on the ideXlab platform.
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mutation screening of the pten gene in patients with autism spectrum disorders and Macrocephaly
American Journal of Medical Genetics, 2007Co-Authors: Joseph Buxbaum, Guiqing Cai, Pauline Chaste, Gudrun Nygren, Juliet Goldsmith, Jennifer Reichert, Maria Rastam, Henrik Anckarsater, Christopher J Smith, Jeremy M SilvermanAbstract:Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Lhermitte-Duclos disease. In addition, PTEN mutations have been described in a few patients with autism spectrum disorders (ASDs) and Macrocephaly. In this study, we screened the PTEN gene for mutations and deletions in 88 patients with ASDs and Macrocephaly (defined as >or=2 SD above the mean). Mutation analysis was performed by direct sequencing of all exons and flanking regions, as well as the promoter region. Dosage analysis of PTEN was carried out using multiplex ligation-dependent probe amplification (MLPA). No partial or whole gene deletions were observed. We identified a de novo missense mutation (D326N) in a highly conserved amino acid in a 5-year-old boy with autism, mental retardation, language delay, extreme Macrocephaly (+9.6 SD) and polydactyly of both feet. Polydactyly has previously been described in two patients with Lhermitte-Duclos disease and CS and is thus likely to be a rare sign of PTEN mutations. Our findings suggest that PTEN mutations are a relatively infrequent cause of ASDs with Macrocephaly. Screening of PTEN mutations is warranted in patients with autism and pronounced Macrocephaly, even in the absence of other features of PTEN-related tumor syndromes.
Caroline M. Mills - One of the best experts on this subject based on the ideXlab platform.
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Macrocephaly cutis marmorata telangiectatica congenita a case report and review of salient features
Journal of The American Academy of Dermatology, 2008Co-Authors: R. P. Katugampola, Celia Moss, Caroline M. MillsAbstract:Macrocephaly–cutis marmorata telangiectatica congenita is a recently recognized syndrome described mainly in the genetics literature. However, children with Macrocephaly–cutis marmorata telangiectatica congenita are likely to present first to a dermatologist, with generalized cutis marmorata telangiectatica congenita as the main feature. These children are at risk of neurologic abnormalities and life-threatening complications. Therefore it is important for dermatologists to recognize this syndrome to monitor these children for potential complications. We report the case of a 2-year-old boy with Macrocephaly–cutis marmorata telangiectatica congenita in association with dysmorphic facies, seizures, and facial and limb asymmetry, and we review the salient features of this syndrome.
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Macrocephaly–cutis marmorata telangiectatica congenita: A case report and review of salient features
Journal of the American Academy of Dermatology, 2008Co-Authors: R. P. Katugampola, Celia Moss, Caroline M. MillsAbstract:Macrocephaly–cutis marmorata telangiectatica congenita is a recently recognized syndrome described mainly in the genetics literature. However, children with Macrocephaly–cutis marmorata telangiectatica congenita are likely to present first to a dermatologist, with generalized cutis marmorata telangiectatica congenita as the main feature. These children are at risk of neurologic abnormalities and life-threatening complications. Therefore it is important for dermatologists to recognize this syndrome to monitor these children for potential complications. We report the case of a 2-year-old boy with Macrocephaly–cutis marmorata telangiectatica congenita in association with dysmorphic facies, seizures, and facial and limb asymmetry, and we review the salient features of this syndrome.
Joseph Buxbaum - One of the best experts on this subject based on the ideXlab platform.
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Mutation screening of the PTEN gene in patients with autism spectrum disorders and Macrocephaly.
Am J Med Genet B Neuropsychiatr Genet., 2007Co-Authors: Joseph Buxbaum, Guiqing Cai, Pauline Chaste, Gudrun Nygren, Juliet Goldsmith, Jennifer Reichert, Maria Rastam, Henrik Anckarsater, Christopher Smith, Jeremy SilvermanAbstract:Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Lhermitte-Duclos disease. In addition, PTEN mutations have been described in a few patients with autism spectrum disorders (ASDs) and Macrocephaly. In this study, we screened the PTEN gene for mutations and deletions in 88 patients with ASDs and Macrocephaly (defined as >/=2 SD above the mean). Mutation analysis was performed by direct sequencing of all exons and flanking regions, as well as the promoter region. Dosage analysis of PTEN was carried out using multiplex ligation-dependent probe amplification (MLPA). No partial or whole gene deletions were observed. We identified a de novo missense mutation (D326N) in a highly conserved amino acid in a 5-year-old boy with autism, mental retardation, language delay, extreme Macrocephaly (+9.6 SD) and polydactyly of both feet. Polydactyly has previously been described in two patients with Lhermitte-Duclos disease and CS and is thus likely to be a rare sign of PTEN mutations. Our findings suggest that PTEN mutations are a relatively infrequent cause of ASDs with Macrocephaly. Screening of PTEN mutations is warranted in patients with autism and pronounced Macrocephaly, even in the absence of other features of PTEN-related tumor syndromes. (c) 2007 Wiley-Liss, Inc.
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mutation screening of the pten gene in patients with autism spectrum disorders and Macrocephaly
American Journal of Medical Genetics, 2007Co-Authors: Joseph Buxbaum, Guiqing Cai, Pauline Chaste, Gudrun Nygren, Juliet Goldsmith, Jennifer Reichert, Maria Rastam, Henrik Anckarsater, Christopher J Smith, Jeremy M SilvermanAbstract:Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Lhermitte-Duclos disease. In addition, PTEN mutations have been described in a few patients with autism spectrum disorders (ASDs) and Macrocephaly. In this study, we screened the PTEN gene for mutations and deletions in 88 patients with ASDs and Macrocephaly (defined as >or=2 SD above the mean). Mutation analysis was performed by direct sequencing of all exons and flanking regions, as well as the promoter region. Dosage analysis of PTEN was carried out using multiplex ligation-dependent probe amplification (MLPA). No partial or whole gene deletions were observed. We identified a de novo missense mutation (D326N) in a highly conserved amino acid in a 5-year-old boy with autism, mental retardation, language delay, extreme Macrocephaly (+9.6 SD) and polydactyly of both feet. Polydactyly has previously been described in two patients with Lhermitte-Duclos disease and CS and is thus likely to be a rare sign of PTEN mutations. Our findings suggest that PTEN mutations are a relatively infrequent cause of ASDs with Macrocephaly. Screening of PTEN mutations is warranted in patients with autism and pronounced Macrocephaly, even in the absence of other features of PTEN-related tumor syndromes.
N E Lynch - One of the best experts on this subject based on the ideXlab platform.
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bannayan riley ruvalcaba syndrome a cause of extreme Macrocephaly and neurodevelopmental delay
Archives of Disease in Childhood, 2009Co-Authors: N E Lynch, Sally Ann Lynch, J. Mcmenamin, David WebbAbstract:Background: Bannayan–Riley–Ruvalcaba syndrome (BRRS) is an autosomal dominant condition characterised by Macrocephaly, developmental delay and subtle cutaneous features. BRRS results from mutations in the PTEN gene. In adults, PTEN mutations cause Cowden syndrome where, in addition to the Macrocephaly, there is a higher risk of tumour development. Diagnosis of BRRS is often delayed as presentation can be variable, even within families. Aims: To identify characteristics of this condition which might facilitate early diagnosis. Prompt diagnosis not only avoids unnecessary investigations in the child but potentially identifies heterozygote parents who are at risk of tumour development. Methods and Results: Six children with a PTEN mutation were identified. All had extreme Macrocephaly. Four parents and a male sibling were found to have a PTEN mutation on subsequent testing. Affected parents had extreme Macrocephaly and a history of thyroid adenoma, or breast or skin lesions. All six children had presented to medical attention before the age of 2.5 years (3/6 were investigated as neonates), but the median age at diagnosis was 5 years. Four of the children had multiple investigations prior to identification of a PTEN mutation. Conclusion: BRRS should be considered in children with extreme Macrocephaly as it is the most consistent clinical feature seen, particularly where there is a family history of Macrocephaly.
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Bannayan–Riley–Ruvalcaba syndrome: a cause of extreme Macrocephaly and neurodevelopmental delay
Archives of Disease in Childhood, 2009Co-Authors: N E Lynch, Sally Ann Lynch, J. Mcmenamin, David WebbAbstract:Background: Bannayan–Riley–Ruvalcaba syndrome (BRRS) is an autosomal dominant condition characterised by Macrocephaly, developmental delay and subtle cutaneous features. BRRS results from mutations in the PTEN gene. In adults, PTEN mutations cause Cowden syndrome where, in addition to the Macrocephaly, there is a higher risk of tumour development. Diagnosis of BRRS is often delayed as presentation can be variable, even within families. Aims: To identify characteristics of this condition which might facilitate early diagnosis. Prompt diagnosis not only avoids unnecessary investigations in the child but potentially identifies heterozygote parents who are at risk of tumour development. Methods and Results: Six children with a PTEN mutation were identified. All had extreme Macrocephaly. Four parents and a male sibling were found to have a PTEN mutation on subsequent testing. Affected parents had extreme Macrocephaly and a history of thyroid adenoma, or breast or skin lesions. All six children had presented to medical attention before the age of 2.5 years (3/6 were investigated as neonates), but the median age at diagnosis was 5 years. Four of the children had multiple investigations prior to identification of a PTEN mutation. Conclusion: BRRS should be considered in children with extreme Macrocephaly as it is the most consistent clinical feature seen, particularly where there is a family history of Macrocephaly.
