Rubinstein-taybi syndrome: Clinical profile of 11 patients and review of literature.
Indian J Hum Genet
;
2012 May; 18(2): 161-166
Artigo
em Inglês
| IMSEAR
| ID: sea-143264
ABSTRACT
Background:
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 AndDesign:
Retrospective study conducted in genetic and metabolic unit of a tertiary care teaching hospital in north India over a period of 3½ years. Materials AndMethods:
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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Síndrome de Rubinstein-Taybi
/
Humanos
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Recém-Nascido
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Criança
/
Pré-Escolar
/
Adolescente
/
Anormalidades Craniofaciais
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Diagnóstico Precoce
/
Lactente
/
Inteligência
Tipo de estudo:
Estudo diagnóstico
/
Estudo observacional
/
Estudo prognóstico
/
Estudo de rastreamento
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2012
Tipo de documento:
Artigo
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