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Long term follow-up of four patients with Keutel syndrome

H E Khosroshahi1, S C Sahin, Y Akyuz

  • 1Pediatric Cardiology, Department of Pediatrics, Bozok University Medical Faculty, Yozgat, Turkey.

American Journal of Medical Genetics. Part A
|August 16, 2014
PubMed

Insights

Keutel syndrome, a rare genetic disorder, involves abnormal cartilage calcification and pulmonary issues. Long-term follow-up revealed respiratory complications and other health problems in affected individuals.

Area of Science:

  • Genetics and rare diseases
  • Medical research
  • Clinical case study

Background:

  • Keutel syndrome (KS) is an autosomal recessive disorder.
  • It is characterized by peripheral pulmonary stenoses, brachytelephalangia, deafness, and abnormal cartilage ossification.
  • Mutations in the matrix Gla protein (MGP) gene are linked to KS, affecting cartilage calcification.

Observation:

  • This report details four sisters with KS from a consanguineous family over 26 years.
  • Patients experienced various complications, primarily affecting the respiratory system.
  • Observed conditions included skin rashes, thyroid carcinoma, asthma, pulmonary emphysema, hypertension, and memory loss.

Findings:

  • Long-term follow-up of KS patients revealed significant respiratory complications.
  • Additional health issues such as skin rashes, thyroid papillary microcarcinoma, and severe hypertension were noted.
  • Infertility was observed in one of the three married patients.

Implications:

  • This case study highlights the diverse and progressive nature of Keutel syndrome.
  • Understanding long-term complications is crucial for comprehensive patient management.
  • Further research into MGP gene function and KS pathogenesis is warranted.
Keywords:
keutel syndromelong term follow-upossification of cartilage tissuetracheobronchial stenosis

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