Rubenstein taybi syndrome research paper

How to Write a Summary of an Article? A Physical and Educational Perspective When speaking of terms of diseases of a rare nature, Rubinstein-Taybi Syndrome is a definite mention. According to Joseph G.

Rubenstein taybi syndrome research paper

This article has been cited by other articles in PMC. Rubinstein-Taybi syndrome RSTS is a rare congenital neurodevelopmental disorder, characterized by postnatal growth deficiency, typical dysmorphic features, broad thumbs and toes, and mental retardation.

Very few cases are reported in literature from developing countries.

Introduction

Diagnosis is often delayed due to non-familiarity with the characteristic features of this syndrome. To report 11 cases of RSTS and to review the current literature. Developmental delay was presenting complaint in 10 patients, and seizure in 1 case.

The intelligence quotient IQ varied from in 7 patients who had mental retardation. The most notable features in hands were broadness, shortening, and flattening of the distal phalanx of thumbs or great toes. Additionally, we also noted webbing of neck, microphthalmia, and pachygyria on MRI brain in 1 patient each.

The diagnosis of RSTS is primarily clinical and based on characteristic phenotype that is often combined with a variety of somatic anomalies.

An early diagnosis facilitates appropriate genetic counseling and in planning the management.

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Beaked nose, broad thumbs, broad toes, dysmorphism, mental retardation Introduction Rubinstein-Taybi syndrome RSTS is a multiple congenital anomalies-mental retardation syndrome, characterized by postnatal growth failure, microcephaly, distinctive facial features, broad and often angulated thumbs and great toes, short stature, and mental retardation.

In most instances, the parents of an individual with RSTS are not affected. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation or deletion in the family is known.

Materials and Methods Between May and Octobera total of patients registered in genetic and metabolic unit of a tertiary care teaching hospital in north India were screened, and 11 patients with diagnosis of RSTS were identified and their case sheets were reviewed.

Information about demographics profile, presenting complaints were obtained. Detailed clinical examination findings, anthropometric profile, abnormal facial features, anomalies, associated features, and complications were noted.

The diagnosis of RSTS was made on basis of clinical features and database search by an expert clinical geneticist. The mean age at diagnosis was 4.

There were more males than females 9 males and 2 females.

Rubenstein taybi syndrome research paper

The mean maternal age at time of birth was There was no history of consanguinity. None of the family members had history of mental retardation or obvious somatic malformations. Clinical features The clinical features of our patients are listed in Table 1.

In this series, 7 patients had short stature length or height below 3rd centile and 8 had postnatal growth failure. Developmental delay was presenting complaint in 10 patients, and seizure in 1.

The intelligence quotient IQ varied from with mean value of 39 using standard approved scales.What is RTS If you are new to this site and looking for answers concerning Rubinstein-Taybi Syndrome then please visit the Book For Families..

The book explains what Rubinstein-Taybi Syndrome is, characteristics and other information concerning RTS.

Rubinstein- Taybi Syndrome: A Physical and Educational Perspective Rubinstein- Taybi Syndrome: A Physical and Educational Perspective When speaking of terms of diseases of a rare nature, Rubinstein-Taybi Syndrome is a definite mention.

Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first iridis-photo-restoration.comonal features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity.

Rubinstein-Taybi syndrome (RSTS; OMIM #) is an autosomal dominant disorder characterized by mental retardation, broad thumbs and toes, distinctive facial abnormalities, and short stature.

RSTS patients have an increased risk of developing tumors, especially congenital glaucoma.

Rubenstein taybi syndrome research paper

Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder, characterized by postnatal growth deficiency, typical dysmorphic features, broad thumbs and toes, and mental retardation. Rubinstein–Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes.

Rubinstein-Taybi syndrome Research Papers - iridis-photo-restoration.com