The Experts below are selected from a list of 1929 Experts worldwide ranked by ideXlab platform
Cathy A. Stevens - One of the best experts on this subject based on the ideXlab platform.
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Intestinal malrotation in Rubinstein-Taybi Syndrome.
American Journal of Medical Genetics Part A, 2015Co-Authors: Cathy A. StevensAbstract:Rubinstein–Taybi Syndrome (RSTS) is a multiple congenital anomaly Syndrome which may include malformations of the central nervous system, heart, genitourinary tract, and other organs. However, intestinal malrotation has not been previously known to be associated with RSTS. This report documents six persons with RSTS who also had malrotation of the intestine requiring surgical repair. This suggests a possible increased frequency of malrotation in RSTS. Diagnostic studies for malrotation should be considered if recurrent vomiting, abdominal pain, and other symptoms of possible malrotation are present. © 2015 Wiley Periodicals, Inc.
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Growth in the Rubinstein-Taybi Syndrome.
American Journal of Medical Genetics, 2005Co-Authors: Cathy A. Stevens, Raoul C M Hennekam, Brent L. BlackburnAbstract:In order to derive standard curves for height, weight, head circumference (OFC), weight-for-height, and height velocity, we obtained serial measurements in 95 patients with the Rubinstein-Taybi Syndrome. Fifty individuals were part of an American study and 45 were ascertained in the Netherlands. Prenatal growth appears to be normal in the Rubinstein-Taybi Syndrome, but height, weight, and OFC rapidly fall below the 5th centile in the first few months of life. Height velocity is somewhat below the mean but within the normal range except for the lack of a pubertal growth spurt. This phenomenon probably contributes to the short stature which is seen in these patients. Males are overweight for height during childhood while females are overweight during adolescence. The average OFC in males is smaller than in females. In general only a minority of adult patients are microcephalic.
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Rubinstein-Taybi Syndrome medical guidelines.
American journal of medical genetics. Part A, 2003Co-Authors: Susan Wiley, Susan Swayne, Nancy E. Lanphear, Jack H Rubinstein, Cathy A. StevensAbstract:Children and adults with Rubinstein-Taybi Syndrome have specific medical conditions that occur with greater frequency than the general population. Based on the available information from the literature and clinical experience, recommendations for specific surveillance and interventions are made to guide those clinicians caring for individuals with Rubinstein-Taybi Syndrome. This is a first attempt at medical guidelines for individuals with RTS in the United States. On-going research is needed in many areas to guide decisions in medical care and allow for refinement of these medical guidelines.
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Rubinstein-Taybi Syndrome medical guidelines.
American Journal of Medical Genetics Part A, 2003Co-Authors: Susan Wiley, Susan Swayne, Jack Rubinstein, Nancy E. Lanphear, Cathy A. StevensAbstract:Children and adults with Rubinstein-Taybi Syndrome have specific medical conditions that occur with greater frequency than the general population. Based on the available information from the literature and clinical experience, recommendations for specific surveillance and interventions are made to guide those clinicians caring for individuals with Rubinstein-Taybi Syndrome. This is a first attempt at medical guidelines for individuals with RTS in the United States. On-going research is needed in many areas to guide decisions in medical care and allow for refinement of these medical guidelines. © 2003 Wiley-Liss, Inc.
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Research Review Rubinstein-Taybi Syndrome Medical Guidelines
2003Co-Authors: Susan Wiley, Susan Swayne, Jack Rubinstein, Nancy E. Lanphear, Cathy A. StevensAbstract:Children and adults with Rubinstein-Taybi Syndrome have specific medical conditions that occur with greater frequency than the general population. Based on the available information from the literature and clinical experience, recommendations for specific surveillance and interventions are made to guide those clinicians caring for individuals with Rubinstein-Taybi Syndrome. This is a first attempt at medical guidelines for individuals with RTS in the United States. Ongoing research is needed in many areas to guide decisions in medical care and allow for refinement of these medical guidelines. 2003 Wiley-Liss, Inc.
Susan Wiley - One of the best experts on this subject based on the ideXlab platform.
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Rubinstein-Taybi Syndrome medical guidelines.
American journal of medical genetics. Part A, 2003Co-Authors: Susan Wiley, Susan Swayne, Nancy E. Lanphear, Jack H Rubinstein, Cathy A. StevensAbstract:Children and adults with Rubinstein-Taybi Syndrome have specific medical conditions that occur with greater frequency than the general population. Based on the available information from the literature and clinical experience, recommendations for specific surveillance and interventions are made to guide those clinicians caring for individuals with Rubinstein-Taybi Syndrome. This is a first attempt at medical guidelines for individuals with RTS in the United States. On-going research is needed in many areas to guide decisions in medical care and allow for refinement of these medical guidelines.
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Rubinstein-Taybi Syndrome medical guidelines.
American Journal of Medical Genetics Part A, 2003Co-Authors: Susan Wiley, Susan Swayne, Jack Rubinstein, Nancy E. Lanphear, Cathy A. StevensAbstract:Children and adults with Rubinstein-Taybi Syndrome have specific medical conditions that occur with greater frequency than the general population. Based on the available information from the literature and clinical experience, recommendations for specific surveillance and interventions are made to guide those clinicians caring for individuals with Rubinstein-Taybi Syndrome. This is a first attempt at medical guidelines for individuals with RTS in the United States. On-going research is needed in many areas to guide decisions in medical care and allow for refinement of these medical guidelines. © 2003 Wiley-Liss, Inc.
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Research Review Rubinstein-Taybi Syndrome Medical Guidelines
2003Co-Authors: Susan Wiley, Susan Swayne, Jack Rubinstein, Nancy E. Lanphear, Cathy A. StevensAbstract:Children and adults with Rubinstein-Taybi Syndrome have specific medical conditions that occur with greater frequency than the general population. Based on the available information from the literature and clinical experience, recommendations for specific surveillance and interventions are made to guide those clinicians caring for individuals with Rubinstein-Taybi Syndrome. This is a first attempt at medical guidelines for individuals with RTS in the United States. Ongoing research is needed in many areas to guide decisions in medical care and allow for refinement of these medical guidelines. 2003 Wiley-Liss, Inc.
Saleh T. Dawod - One of the best experts on this subject based on the ideXlab platform.
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Monozygotic twins concordant for Rubinstein-Taybi Syndrome.
Clinical Genetics, 2008Co-Authors: Qais Ghanem, Saleh T. DawodAbstract:Monozygotic twin sisters from Qatar, concordant for the Rubinstein-Taybi Syndrome, are described. Skeletal anomalies not previously seen in this Syndrome are described. The mode of inheritance is reviewed.
Raoul C M Hennekam - One of the best experts on this subject based on the ideXlab platform.
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Rubinstein–Taybi Syndrome
European Journal of Human Genetics, 2006Co-Authors: Raoul C M HennekamAbstract:In this review a short overview of pertinent clinical and molecular data of the Rubinstein–Taybi Syndrome are provided. A diagnostic decision algorithm, and major issues that should be considered in the management of patients are discussed. Suggestions for further research are given.
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Management of Genetic Syndromes - Rubinstein-Taybi Syndrome.
European Journal of Human Genetics, 2006Co-Authors: Raoul C M HennekamAbstract:In this review a short overview of pertinent clinical and molecular data of the Rubinstein-Taybi Syndrome are provided. A diagnostic decision algorithm, and major issues that should be considered in the management of patients are discussed. Suggestions for further research are given.
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Rubinstein-Taybi Syndrome.
Eur J Hum Genet, 2006Co-Authors: Raoul C M HennekamAbstract:In this review a short overview of pertinent clinical and molecular data of the Rubinstein-Taybi Syndrome are provided. A diagnostic decision algorithm, and major issues that should be considered in the management of patients are discussed. Suggestions for further research are given.
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Growth in the Rubinstein-Taybi Syndrome.
American Journal of Medical Genetics, 2005Co-Authors: Cathy A. Stevens, Raoul C M Hennekam, Brent L. BlackburnAbstract:In order to derive standard curves for height, weight, head circumference (OFC), weight-for-height, and height velocity, we obtained serial measurements in 95 patients with the Rubinstein-Taybi Syndrome. Fifty individuals were part of an American study and 45 were ascertained in the Netherlands. Prenatal growth appears to be normal in the Rubinstein-Taybi Syndrome, but height, weight, and OFC rapidly fall below the 5th centile in the first few months of life. Height velocity is somewhat below the mean but within the normal range except for the lack of a pubertal growth spurt. This phenomenon probably contributes to the short stature which is seen in these patients. Males are overweight for height during childhood while females are overweight during adolescence. The average OFC in males is smaller than in females. In general only a minority of adult patients are microcephalic.
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Oral aspects of Rubinstein-Taybi Syndrome
American Journal of Medical Genetics, 2005Co-Authors: Raoul C M Hennekam, J. M. Van DoorneAbstract:Oral findings in 45 patients with Rubinstein-Taybi Syndrome living in The Netherlands are compared with those from the literature. The main non-dental findings were thin upper lip, small oral opening, pouting lower lip, retro/micrognathia, and apparently higher arched, narrow palate. Cleft uvula, cleft palate, or, rarely, cleft upper lip can be part of the Syndrome. Timing of the eruption of deciduous and permanent dentition is normal. Sixty-two percent of patients have malpositioned, crowded teeth. Marked caries was found in 36% and was possibly caused by problems in dental care due to the small opening of the mouth, malposition and malformation of the teeth, and non-cooperation of the patients. Hypodontia, hyperdontia, and natal teeth can be manifestations of the Syndrome. In 73% of all patients and in 92% of all permanent dentitions, talon cusps were found. Two or more talon cusps are rarely found in the normal population or other Syndromes. Therefore, this finding strongly supports the diagnosis of Rubinstein-Taybi Syndrome in patients in whom this diagnosis is suspected.
M. A. Preece - One of the best experts on this subject based on the ideXlab platform.
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The Rubinstein-Taybi Syndrome: occurrence in two sets of identical twins.
Clinical Genetics, 2008Co-Authors: M. Baraitser, M. A. PreeceAbstract:Two pairs of monozygotic twins, concordant for the Rubinstein-Taybi Syndrome, are reported.
