The Experts below are selected from a list of 89181 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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Rubinstein taybi syndrome
2014Co-Authors: Cathy A. StevensAbstract:Clinical characteristics Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation. Diagnosis/testing The diagnosis of RSTS is established in a proband with characteristic clinical features. Identification of a heterozygous pathogenic variant in CREBBP or EP300 confirms the diagnosis if clinical features are inconclusive. Management Treatment of manifestations: Early intervention programs, special education, vocational training to address developmental disabilities, referral to behavioral specialists / psychologists, and support groups / resources for family members; standard treatment for eye abnormalities, hearing loss, sleep apnea, cardiac anomalies, renal anomalies, cryptorchidism, and dental anomalies; aggressive management of gastroesophageal reflux and constipation; surgical repair of significantly angulated thumbs or duplicated halluces. Surveillance: Monitoring of growth and feeding, especially in the first year of life; annual eye and hearing evaluations; routine monitoring for cardiac, renal, and dental anomalies. Genetic counseling RSTS is inherited in an autosomal dominant manner. RSTS typically occurs as the result of a de novo pathogenic variant in the family; most individuals represent simplex cases (i.e., the only affected member in a family). In most instances, the parents of an individual with RSTS are not affected. When the parents are clinically unaffected, sibs are still presumed to be at increased risk for RSTS because of the possibility of a mild phenotype in a heterozygous parent or parental somatic and/or germline mosaicism. The empiric recurrence risk for sibs is less than 1%. Individuals with RSTS rarely reproduce. The risk to offspring is 50%. Once the pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis are possible.
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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.
Susan Swayne - 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.
Nancy E. Lanphear - 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.
Frank Majewski - One of the best experts on this subject based on the ideXlab platform.
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Monozygotic twins concordant for Rubinstein-Taybi syndrome: changing phenotype during infancy
Clinical Genetics, 2008Co-Authors: Sabine Preis, Frank MajewskiAbstract:We describe monozygotic twin sisters concordant for Rubinstein-Taybi syndrome diagnosed at the age of 10 weeks. The typical features of Rubinstein-Taybi syndrome in early infancy increasingly developed towards the total "Gestalt" at the age of 2 years and 10 months.
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fish studies in 45 patients with Rubinstein taybi syndrome deletions associated with polysplenia hypoplastic left heart and death in infancy
European Journal of Human Genetics, 1999Co-Authors: Oliver Bartsch, Annett Wagner, Georg Klaus Hinkel, Petra Krebs, Markus Stumm, Bernhard Schmalenberger, Sabine Bohm, Sevim Balci, Frank MajewskiAbstract:FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
