[Smith-Magenis syndrome]. / Syndrome de Smith-Magenis.
Arch Pediatr
; 4(5): 438-42, 1997 May.
Article
in Fr
| MEDLINE
| ID: mdl-9230994
ABSTRACT
BACKGROUND:
The main features of the Smith-Magenis syndrome include broad flat midface, brachycephaly, broad nasal bridge, brachydactyly, hoarse deep voice, speech and developmental delay, and behavioral anomalies. This syndrome is due to interstitial deletion of chromosome 17p11.2. CASE REPORT A 7-year-old girl was admitted for mental retardation. Clinical examination showed brachycephaly, broad flat midface, broad nasal bridge, malar hypoplasia, brachydactyly, decreased or absent deep tendon reflexes, and hoarse deep voice. She had a mild deafness, behavioral problems, and sleep disturbances. Chromosome analysis on lymphocytes identified a microdeletion of one chromosome subband 17p11.2. Molecular studies indicated loss of maternal allele.CONCLUSION:
The Smith-Magenis syndrome is probably underdiagnosed because of its usually mild clinical features. High-resolution chromosome analysis is needed for diagnosis.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Abnormalities, Multiple
/
Chromosomes, Human, Pair 17
/
Chromosome Aberrations
/
Chromosome Deletion
Type of study:
Prognostic_studies
Limits:
Child
/
Female
/
Humans
Language:
Fr
Journal:
Arch Pediatr
Year:
1997
Document type:
Article
Affiliation country:
France