Rubinstein-taybi syndrome: Clinical profile of 11 patients and review of literature.

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dc.contributor.authorKumar, Suresh
dc.contributor.authorSuthar, Renu
dc.contributor.authorPanigrahi, Inusha
dc.contributor.authorMarwaha, Ram K
dc.date.accessioned2012-11-21T09:38:45Z
dc.date.available2012-11-21T09:38:45Z
dc.date.issued2012-05
dc.description.abstractBackground: 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. Diagnosis is often delayed due to non-familiarity with the characteristic features of this syndrome. Aims: To report 11 cases of RSTS and to review the current literature. Settings And Design: Retrospective study conducted in genetic and metabolic unit of a tertiary care teaching hospital in north India over a period of 3½ years. Materials And Methods: 11 patients with diagnosis of RSTS were identified, and their case sheets were reviewed. Results: Developmental delay was presenting complaint in 10 patients, and seizure in 1 case. 7 patients had microcephaly (head circumference below −3 SD), and a prominent beaked nose was seen in 9 patients. The intelligence quotient (IQ) varied from 22-62 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. Conclusions: 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.en_US
dc.identifier.citationKumar Suresh, Suthar Renu, Panigrahi Inusha, Marwaha Ram K. Rubinstein-taybi syndrome: Clinical profile of 11 patients and review of literature. Indian Journal of Human Genetics. 2012 May; 18(2): 161-166.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/143264
dc.language.isoenen_US
dc.source.urihttps://www.ijhg.com/article.asp?issn=0971-6866;year=2012;volume=18;issue=2;spage=161;epage=166;aulast=Kumaren_US
dc.subjectBeaked noseen_US
dc.subjectbroad thumbsen_US
dc.subjectbroad toesen_US
dc.subjectdysmorphismen_US
dc.subjectmental retardationen_US
dc.subject.meshAdolescent
dc.subject.meshChild
dc.subject.meshChild, Preschool
dc.subject.meshCraniofacial Abnormalities --epidemiology
dc.subject.meshCraniofacial Abnormalities --etiology
dc.subject.meshEarly Diagnosis
dc.subject.meshHumans
dc.subject.meshInfant
dc.subject.meshInfant, Newborn
dc.subject.meshIntellectual Disability --epidemiology
dc.subject.meshIntellectual Disability --etiology
dc.subject.meshIntelligence --classification
dc.subject.meshRubinstein-Taybi Syndrome --diagnosis
dc.subject.meshRubinstein-Taybi Syndrome --epidemiology
dc.subject.meshRubinstein-Taybi Syndrome --etiology
dc.subject.meshRubinstein-Taybi Syndrome --therapy
dc.titleRubinstein-taybi syndrome: Clinical profile of 11 patients and review of literature.en_US
dc.typeArticleen_US
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