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Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report

Isabel Mendes Gaspar1, Tiago Saldanha, Pedro Cabral

  • 1Department of Medical Genetics, Egas Moniz Hospital, Lisboa, Portugal. isabelgaspar@netsapo.pt

American Journal of Medical Genetics. Part A
|June 12, 2008
PubMed

Insights

Stuve-Wiedemann syndrome (SWS) is a rare genetic disorder with high neonatal mortality. This report details a 12-year-old Portuguese girl with SWS, highlighting prolonged survival and comparing her case to literature findings.

Area of Science:

  • Genetics and Rare Diseases
  • Skeletal Dysplasias
  • Neurology

Background:

  • Stuve-Wiedemann syndrome (SWS) is an autosomal recessive disorder.
  • SWS typically presents with severe skeletal anomalies and neurological features resembling dysautonomia.
  • High neonatal mortality is characteristic, with few cases reporting prolonged survival.

Observation:

  • The study presents the natural history of a Portuguese female patient with SWS from birth to 12 years.
  • Clinical manifestations included progressive skeletal deformities and neurological symptoms.
  • The patient's diagnosis was confirmed via molecular testing.

Findings:

  • A homozygous 4 bp deletion (167_170 del TAAC) in exon 3 of the LIFR gene was identified.
  • This genetic finding confirms the diagnosis of Stuve-Wiedemann syndrome.
  • The patient's clinical course and long-term survival were documented and compared with existing literature.

Implications:

  • This case expands the understanding of Stuve-Wiedemann syndrome's natural history and survival.
  • Molecular confirmation aids in accurate diagnosis and genetic counseling for SWS.
  • Further research into LIFR mutations may reveal therapeutic targets for SWS management.

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