Dental management of a patient with Rubinstein-Taybi syndrome
Mariana Edith Huerta Morales2010, Special Care in Dentistry
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Abstract
Rubinstein-Taybi syndrome (RTS) occurs in one out of 300,000 individuals. It is mainly characterized by a delay in growth, psychomotor retardation, duplication of the distal phalanx of the thumbs, typical facial dimorphism, a risk of cancer, and multiple dental abnormalities. This case report describes the dental management of a 13-year-old female with RTS, who had multiple dental problems such as caries, periodontal disease, and a severe malocclusion. Physical findings were similar to those previously described in other reports. Dental treatment was carried out under sedation due to the patient's inability to cooperate during dental treatment. After 3 years of follow-up there were no new caries and the periodontal health had improved.
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American Journal of Medical Genetics Part A, 2007
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American Journal of Medical Genetics, 2005
In order to examine several aspects related to the natural history of the Rubinstein-Taybi syndrome, we performed a questionnaire study of 50 patients who had been diagnosed with the condition. The cases were ascertained through a national parent support group and all of the individuals had been reared at home. The most frequent problems encountered were inadequate weight gain in infancy, eye problems, dental abnormalities, congenital heart defects, urinary tract problems, and severe constipation. These medical disorders and others resulted in approximately 10 times the average number of hospitalizations and surgeries as the general population of children.
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Archives of Disease in Childhood, 1968
In 1963, Jack Rubinstein and Hooshang Taybi described a group of 7 children whose external appearance was sufficiently remarkable to be con- sidered as a new syndrome, and within three years further cases were presented (Coffin
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The Annals of Eurasian Medicine, 2013
Rubinstein-Taybi Sendromu (RTS), 16. kromozomda heterojen mutasyona bağlı gelişen genetik bir bozukluktur. Bir çok konjenital anomalinin bulunduğu bu sendrom mental retardasyon, kraniyofasiyal deformiteler ve parmak anomalileri ile karakterizedir. Bu sendroma sahip çoçuklarda diş problemleri nedeniyle genel anestezi veya sedasyon altında girişim gerekebilir. Ondört yaşında RTS tanısı olan ve dental tedavi amacıyla Gazi Üniversitesi Tıp Fakültesi Diş Hekimliği Fakültesine başvuran erkek çocukta yapılan ilk değerlendirmede mikrosefali, retrognati, geniş el başparmağı ve kooperasyon kısıtlılığı saptandı. Mallampati skoru II olarak değerlendirildi. İntravenöz kanulasyon ve standart monitörizasyonu takiben, nazal maske ile spontan solunumu koruyacak şekilde O2/N2O (%50/50) uygulanmaya başlandı ve gerekli sedasyon düzeyine ulaşmak amacıyla ketamin ve midazolam verildi. Her ne kadar olgumuzda derin sedasyon uygulaması herhangi bir komplikasyon gelişmeksizin uygulanmış olsa da, zor havayolu olasılığı göz önüne alınarak algoritmalarda yer alan tüm önerilerin uyulması gerektiğini düşünmekteyiz.
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Rubinstein-Taybi Syndrome (RSTS) is a rare multiple congenital anomaly syndrome. Only 250 cases have been described in medical literature. We hereby present a 10-month-old male child with characteristic facial features and hand and feet anomalies. The characteristic features of hands and feet typically described are broad thumbs and halluces and clinodactyly of the 5th finger, whereas polydactyly is a rarely reported feature in this syndrome. This case promotes awareness regarding this syndrome and emphasises rarely reported features that should raise high degree of suspicion in a child presenting with multiple congenital anomalies and have a great importance in diagnosis of a genetic syndrome like RSTS. Early detection is essential for prevention of morbidity, mortality and disability.
An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly Corresponding author
2016
Rubinstein-Taybi Syndrome (RSTS) is a rare multiple congenital anomaly syndrome. Only 250 cases have been described in medical literature. We hereby present a 10-month-old male child with characteristic facial features and hand and feet anomalies. The characteristic features of hands and feet typically described are broad thumbs and halluces and clinodactyly of the 5 th finger, whereas polydactyly is a rarely reported feature in this syndrome. This case promotes awareness regarding this syndrome and emphasises rarely reported features that should raise high degree of suspicion in a child presenting with multiple congenital anomalies and have a great importance in diagnosis of a genetic syndrome like RSTS. Early detection is essential for prevention of morbidity, mortality and disability.
Unusual prenatal presentation of Rubinstein-Taybi syndrome: A case report
American Journal of Medical Genetics Part A, 2014
Rubinstein-Taybi syndrome (RTS) is a rare multiple congenital anomalies-intellectual disability syndrome. The diagnosis is made after birth and based on the detection of signs such as growth and developmental delay, minor facial anomalies, and broad thumbs and halluces. It is rare to suspect RTS during the prenatal period. We report here the approach to a patient with RTS whose pregnancy was complicated by multiple congenital anomalies. However, in the presence of the broad thumb and facial anomalies, we were able to suggest the correct diagnosis. The RTS was confirmed at birth and the molecular analysis of the major causative gene revealed a previously unreported heterozygous truncating mutation of CREBBP. This report provides new knowledge of the fetal phenotype of RTS.
Anaesthetic Management of Children with Rubinstein-Taybi Syndrome
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Egyptian Journal of Medical Human Genetics, 2012
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American Journal of …, 1990
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European Journal of Pediatrics, 1989
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Indian Journal of Physical Medicine and Rehabilitation, 2017
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American Journal of Medical Genetics, 2003
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Case Report: Rubinstein-Taybi Syndrome
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Dental Extraction Under Deep Sedation in a Patient with Rubinstein-Taybi Syndrome: Case Report Rubinstein-Taybi Sendromlu Hastada Derin Sedasyon Altında Diş Çekimi: Olgu Sunumu
Rubinstein-Taybi Sendromu (RTS), 16. kromozomda heterojen mutasyona bağlı gelişen genetik bir bozukluktur. Bir çok konjenital anomalinin bulunduğu bu sendrom mental retardasyon, kraniyofasiyal deformiteler ve parmak anomalileri ile karakterizedir. Bu sendroma sahip çoçuklarda diş problemleri nedeniyle genel anestezi veya sedasyon altında girişim gerekebilir. Ondört yaşında RTS tanısı olan ve dental tedavi amacıyla Gazi Üniversitesi Tıp Fakültesi Diş Hekimliği Fakültesine başvuran erkek çocukta yapılan ilk değerlendirmede mikrosefali, retrognati, geniş el başparmağı ve kooperasyon kısıtlılığı saptandı. Mallampati skoru II olarak değerlendirildi. İntravenöz kanulasyon ve standart monitörizasyonu takiben, nazal maske ile spontan solunumu koruyacak şekilde O2/N2O (%50/50) uygulanmaya başlandı ve gerekli sedasyon düzeyine ulaşmak amacıyla ketamin ve midazolam verildi. Her ne kadar olgumuzda derin sedasyon uygulaması herhangi bir komplikasyon gelişmeksizin uygulanmış olsa da, zor havayolu olasılığı göz önüne alınarak algoritmalarda yer alan tüm önerilerin uyulması gerektiğini düşünmekteyiz.
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