Back to Search
Start Over
BRACHYDACTYLY, PECULIAR FACIES AND MENTAL RETARDATION
- Source :
- American journal of diseases of children (1960). 108
- Publication Year :
- 1964
-
Abstract
- A little-known syndrome has been observed in recent years in six white children from scattered localities and unrelated families. The children are small in size and backward in mental development: they have characteristic facies, lax muscles and joints, abnormally wide thumbs and first toes, and a variety of other anomalies. Recently, Rubinstein and Taybi 1 have described several cases of the same syndrome. Since our patients resemble theirs in many details, a presentation of our clinical findings should help to gain wider recognition of Rubinstein's syndrome, and may add certain features, especially the frequent presence of congenital heart disease. An additional reason for calling attention to this syndrome is the fact that all of our patients were visibly abnormal at birth: physicians who encounter these neonates can begin to plan for the ensuing retardation of development. Each patient was studied fully. The history emphasized questions regarding illnesses and injuries in
- Subjects :
- Mental development
Pediatrics
medicine.medical_specialty
Heart disease
Genetics, Medical
Peculiar facies
Congenital Abnormalities
Fingers
Muscular Diseases
Intellectual Disability
Intellectual disability
Pathology
Medicine
Humans
Child
Hand deformity
Brain Diseases
business.industry
Brachydactyly
Facies
Infant
Endocardial Fibroelastosis
Hand Deformities
Toes
medicine.disease
Enteritis
Facial Expression
Pediatrics, Perinatology and Child Health
Presentation (obstetrics)
business
Deglutition Disorders
Subjects
Details
- ISSN :
- 0002922X
- Volume :
- 108
- Database :
- OpenAIRE
- Journal :
- American journal of diseases of children (1960)
- Accession number :
- edsair.doi.dedup.....1dfb91bb76528f691572825ff0e4dced