Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
Journal Article
·
· American Journal of Medical Genetics
- Baylor College of Medicine, Houston, TX (United States); and others
Smith-Magenis syndrome (SMS) is a multiple congenital anomaly, mental retardation (MCA/MR) syndrome associated with deletion of chromosome 17 band p11.2. As part of a multi-disciplinary clinical, cytogenetic, and molecular approach to SMS, detailed clinical studies including radiographic neurologic, developmental, ophthalmologic, otolaryngologic, and audiologic evaluations were performed on 27 SMS patients. Significant findings include otolaryngologic abnormalities in 94%, eye abnormalities in 85%, sleep abnormalities (especially reduced REM sleep) in 75%, hearing impairment in 68% (approximately 65% conductive and 35% sensorineural), scoliosis in 65% brain abnormalities (predominantly ventriculomegaly) in 52%, cardiac abnormalities in at least 37%, renal anomalies (especially duplication of the collecting system) in 35%, low thyroxine levels in 29%, low immunoglobulin levels in 23%, and forearm abnormalities in 16%. The measured IQ ranged between 20-78, most patients falling in the moderate range of mental retardation at 40-54, although several patients scored in the mild or borderline range. The frequency of these many abnormalities in SMS suggests that patients should be evaluated thoroughly for associated complications both at the time of diagnosis and at least annually thereafter. 42 refs., 2 figs., 3 tabs.
- OSTI ID:
- 426141
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 3 Vol. 62; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
Similar Records
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients
The importance of using fluorescence in situ hybridization for the diagnosis of Smith-Magenis syndrome
The human homologue of the Drosophila melanogaster flightless-I gene (fliI) maps within the Smith-Magenis microdeletion critical region in 17p11.2
Journal Article
·
Wed May 01 00:00:00 EDT 1996
· American Journal of Human Genetics
·
OSTI ID:273499
The importance of using fluorescence in situ hybridization for the diagnosis of Smith-Magenis syndrome
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:133702
The human homologue of the Drosophila melanogaster flightless-I gene (fliI) maps within the Smith-Magenis microdeletion critical region in 17p11.2
Journal Article
·
Sat Dec 31 23:00:00 EST 1994
· American Journal of Human Genetics
·
OSTI ID:70380