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[Smith-Magenis syndrome]

D Lacombe1, A Moncla, P Malzac

  • 1Service de pédiatrie et de génétique médicale, hôpital Pellegrin-Enfants, Bordeaux, France.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|May 1, 1997
PubMed
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Smith-Magenis syndrome, a genetic disorder caused by a chromosome 17p11.2 deletion, presents with distinct facial features and developmental delays. Early diagnosis through high-resolution analysis is crucial due to potentially mild symptoms.

Area of Science:

  • Genetics
  • Pediatrics
  • Clinical Medicine

Background:

  • Smith-Magenis syndrome (SMS) is characterized by a specific interstitial deletion on chromosome 17p11.2.
  • Key features include a broad, flat midface, brachycephaly, broad nasal bridge, brachydactyly, hoarse voice, and developmental and behavioral issues.

Observation:

  • A 7-year-old girl presented with mental retardation, exhibiting typical SMS features such as brachycephaly, midface hypoplasia, and brachydactyly.
  • Additional findings included a hoarse voice, mild deafness, behavioral problems, and sleep disturbances.

Findings:

  • Chromosome analysis confirmed a microdeletion in the 17p11.2 subband.
  • Molecular studies revealed the deletion was inherited from the maternal allele.

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Implications:

  • SMS may be underdiagnosed due to its often subtle clinical presentation.
  • High-resolution chromosome analysis is essential for accurate SMS diagnosis.
  • Identifying the specific deletion aids in understanding the genetic basis and potential management strategies.