The Experts below are selected from a list of 1125 Experts worldwide ranked by ideXlab platform
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.
R. P. Katugampola - 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.
Jill Claytonsmith - One of the best experts on this subject based on the ideXlab platform.
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child with overgrowth pigmentary streaks polydactyly and intestinal lymphangiectasia macrocephaly Cutis Marmorata telangiectatica congenita syndrome or new disorder
American Journal of Medical Genetics Part A, 2003Co-Authors: André Mégarbané, Joseph Haddad, Stanislass Lyonnet, Jill ClaytonsmithAbstract:We report a male patient with increased birth weight and growth, Cutis Marmorata, macrocephaly, large hands and feet, thick subcutaneous tissues, postaxial polydactyly, linear skin hyperpigmentation following the lines of Blaschko, and intestinal lymphangiectasia. Although the findings resemble the recently defined macrocephaly Cutis Marmorata syndrome, some findings suggest that this might be a new disorder. Differential diagnosis are discussed, with a review of the literature. © 2002 Wiley-Liss, Inc.
André Mégarbané - One of the best experts on this subject based on the ideXlab platform.
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child with overgrowth pigmentary streaks polydactyly and intestinal lymphangiectasia macrocephaly Cutis Marmorata telangiectatica congenita syndrome or new disorder
American Journal of Medical Genetics Part A, 2003Co-Authors: André Mégarbané, Joseph Haddad, Stanislass Lyonnet, Jill ClaytonsmithAbstract:We report a male patient with increased birth weight and growth, Cutis Marmorata, macrocephaly, large hands and feet, thick subcutaneous tissues, postaxial polydactyly, linear skin hyperpigmentation following the lines of Blaschko, and intestinal lymphangiectasia. Although the findings resemble the recently defined macrocephaly Cutis Marmorata syndrome, some findings suggest that this might be a new disorder. Differential diagnosis are discussed, with a review of the literature. © 2002 Wiley-Liss, Inc.
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Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: macrocephaly-Cutis Marmorata telangiectatica congenita syndrome or new disorder?
American Journal of Medical Genetics Part A, 2002Co-Authors: André Mégarbané, Joseph Haddad, Stanislass Lyonnet, Jill Clayton-smithAbstract:We report a male patient with increased birth weight and growth, Cutis Marmorata, macrocephaly, large hands and feet, thick subcutaneous tissues, postaxial polydactyly, linear skin hyperpigmentation following the lines of Blaschko, and intestinal lymphangiectasia. Although the findings resemble the recently defined macrocephaly Cutis Marmorata syndrome, some findings suggest that this might be a new disorder. Differential diagnosis are discussed, with a review of the literature.
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Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: Macrocephaly–Cutis Marmorata telangiectatica congenita syndrome or new disorder?
American Journal of Medical Genetics Part A, 2002Co-Authors: André Mégarbané, Joseph Haddad, Stanislass Lyonnet, Jill Clayton-smithAbstract:We report a male patient with increased birth weight and growth, Cutis Marmorata, macrocephaly, large hands and feet, thick subcutaneous tissues, postaxial polydactyly, linear skin hyperpigmentation following the lines of Blaschko, and intestinal lymphangiectasia. Although the findings resemble the recently defined macrocephaly Cutis Marmorata syndrome, some findings suggest that this might be a new disorder. Differential diagnosis are discussed, with a review of the literature. © 2002 Wiley-Liss, Inc.
Celia Moss - 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.
