Long term follow-up of four patients with Keutel syndrome

Am J Med Genet A. 2014 Nov;164A(11):2849-56. doi: 10.1002/ajmg.a.36699. Epub 2014 Aug 13.


Keutel syndrome (KS) [OMIM 245150] is an autosomal recessive hereditary syndrome characterized by multiple peripheral pulmonary stenoses (PPS), brachytelephalangia, inner ear deafness, and abnormal cartilage ossification or calcification. Mutations in the matrix Gla protein (MGP) gene have been reported in different unrelated families with KS previously. MGP is an extracellular matrix protein and calcification inhibitor; mutations in its encoding gene result in cartilage ossification or calcification, the main presenting feature of KS. This report describes the findings of four sisters with KS born to consanguineous parents were followed for 26 years in an irregular fashion. During follow-up of the patients over the years the complications appear to be mostly involving the respiratory system. Permanent skin rashes, papillary microcarcinoma of the thyroid, asthma, massive bullous pulmonary emphysema, severe systemic arterial hypertension, and short term memory loss were observed during long term follow-up. The fertility status of the patients were also observed and infertility was observed in one of three married patients.

Keywords: keutel syndrome; long term follow-up; ossification of cartilage tissue; tracheobronchial stenosis.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • Adult
  • Biopsy
  • Calcinosis / diagnosis*
  • Calcinosis / genetics*
  • Cartilage Diseases / diagnosis*
  • Cartilage Diseases / genetics*
  • Consanguinity
  • Facies
  • Female
  • Follow-Up Studies
  • Hand Deformities, Congenital / diagnosis*
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Lung / pathology
  • Phenotype*
  • Pulmonary Valve Stenosis / diagnosis*
  • Pulmonary Valve Stenosis / genetics*
  • Risk Factors
  • Siblings
  • Skin / pathology
  • Thyroid Gland / diagnostic imaging
  • Thyroid Gland / pathology
  • Tomography, X-Ray Computed
  • Young Adult

Supplementary concepts

  • Keutel syndrome