Subject(s)
Adult , Humans , Male , Hallux/pathology , Rubinstein-Taybi Syndrome/diagnosis , Thumb/pathologyABSTRACT
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 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.
Subject(s)
Adolescent , Child , Child, Preschool , Craniofacial Abnormalities/epidemiology , Craniofacial Abnormalities/etiology , Early Diagnosis , Humans , Infant , Infant, Newborn , Intellectual Disability/epidemiology , Intellectual Disability/etiology , Intelligence/classification , Rubinstein-Taybi Syndrome/diagnosis , Rubinstein-Taybi Syndrome/epidemiology , Rubinstein-Taybi Syndrome/etiology , Rubinstein-Taybi Syndrome/therapyABSTRACT
A patient of 25 years old girl bearing Rubinstein Taybi syndrome (RST) is presented. Broad thumbs and great toes, peculiar facial features and mental retardation characterize the syndrome. The oral and physical findings of the patient are reported, and she was subjected to orthodontic, phonoaudiologic and kinesiologic studies in order to give her a consistent oral rehabilitahon and preventive treatment
Subject(s)
Female , Adult , Humans , Rubinstein-Taybi Syndrome/diagnosis , Stomatognathic System Abnormalities/diagnosisABSTRACT
A síndrome de Rubinistein-Taybi é extremamente rara, ocorrendo numa proporçäo de 1:300.000 nascimentos. Seu diagnóstico é baseado nas características físicas do paciente, sendo que as alteraçöes morfológicas dentais estäo presentes em 90 por cento dos casos. O cirurgiäo-dentista deve estar atento näo só para o tratamento odontológico do paciente, devido aos possíveis comprometimentos sistêmicos, como para a possibilidade de diagnosticar a síndrome de Rubinstein-Taybi
Subject(s)
Humans , Female , Child , Clinical Diagnosis , Intellectual Disability/complications , Rubinstein-Taybi Syndrome/diagnosis , Dentist-Patient Relations , Rubinstein-Taybi Syndrome/complicationsABSTRACT
Revisäo e apresentaçäo de dois casos desta rara síndrome que é provavelmente causada por anomalia genética. Também destacam a necessidade de investigar a possível existência de malformaçöes internas
Subject(s)
Humans , Male , Female , Child , Diagnosis, Differential , Rubinstein-Taybi Syndrome/diagnosisABSTRACT
Presentamos el caso de un paciente pediátrico, con manifestaciones de Retardo mental y características físicas singulares, correspondientes al denominado síndrome de Rubinstein-Taybi, el cual está incluido en un programa integral de Rehabilitación para potenciar las áreas Psicofísicas sobre las cuales presenta deficiencias.