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Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome

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Abstract

Keutel syndrome (KS) is a rare, autosomal recessive condition characterized by diffuse cartilaginous calcification, nasal hypoplasia, brachytelephalangy, and peripheral pulmonary stenosis. A review of the literature produced only 15 reported patients, of whom plain radiographs of the hand or a detailed report are available for review in ten. A distinctive pattern of broadening and shortening of the first through fourth distal phalanges, with sparing of the fifth distal phalanx, is seen in seven of these patients. Two additional patients with Keutel syndrome and this identical finding are presented. I suggest that this pattern of brachytelephalangy is sensitive and highly suggestive of the diagnosis of Keutel syndrome.

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References

  1. Keutel J, Jorgensen G, Gabriel P (1972) A new autosomal recessive syndrome: peripheral pulmonary stenoses, brachytelephalangism, neural hearing loss and abnormal cartilage calcifications/ossification. Birth Defects 8:60–68

    Google Scholar 

  2. Say B, Balci S, Pirnar T, et al (1973) Unusual calcium deposition in cartilage associated with short stature and peculiar facial features: a case report. Pediatr Radiol 1:127–129

    CAS  PubMed  Google Scholar 

  3. Fryns JP, van Flateren A, Mattelaer P, et al (1984) Calcification of cartilages, brachytelephalangy, and peripheral pulmonary stenosis. Confirmation of the Keutel syndrome. Eur J Pediatr 142:201–203

    CAS  PubMed  Google Scholar 

  4. Cormode EJ, Dawson M, Lowry RB (1986) Keutel syndrome: clinical report and literature review. Am J Med Genet 24:289–294

    CAS  PubMed  Google Scholar 

  5. Khosroshahi HE, Uluoglu O, Olgunturk R, et al (1989) Keutel syndrome: a report of four cases. Eur J Pediatr 149:188–191

    CAS  PubMed  Google Scholar 

  6. Haddad MC, Sharif HS, Jared MS, et al (1993) Premature tracheobronchial, laryngeal, and costochondral cartilage calcification in children. Clin Radiol 47:52–55

    CAS  PubMed  Google Scholar 

  7. Ziereisen F, De Munter C, Perlmutter N (1993) The Keutel syndrome: report of a case and review of the literature. Pediatr Radiol 23:314–315

    Google Scholar 

  8. Teebi AS, Lambert DM, Kaye GM, et al (1998) Keutel syndrome: further characterization and review. Am J Med Genet 78:182–187

    Article  CAS  PubMed  Google Scholar 

  9. Gorlin RJ, Cohen MM Jr, Hennekam RCM (2001) Syndromes of the head and neck, 4th edn. Oxford University Press, New York, p. 1161

  10. Poznanski AJ (1974). The hand in radiologic diagnosis. WB Saunders, Philadelphia, p. 459

  11. Taybi H, Lachman R (1996) Radiology of syndromes, metabolic disorders, and skeletal dysplasias, 4th edn. Mosby Year Book, St. Louis, pp 272–273, 777–778, 1021, 1026

  12. Munroe PB, Olgunturk RO, Fryns JP, et al (1999) Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. Nature Genet 21:142–144

    Article  CAS  Google Scholar 

  13. Greulich WW, Pyle SI (1959) Radiographic atlas of a skeletal development of the hand and wrist, 2nd edn. Stanford University Press, Stanford

  14. Maroteaux P (1989) Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form. Hum Genet 82:167–170

    CAS  PubMed  Google Scholar 

  15. Poznanski AK (1994) Punctate epiphyses: a radiological sign not a disease. Pediatr Radiol 24:418–424

    Google Scholar 

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  1. Department of Diagnostic Imaging, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada

    Stephen F. Miller

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  1. Stephen F. Miller
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Correspondence to Stephen F. Miller.

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Miller, S.F. Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome. Ped Radiol 33, 186–189 (2003). https://doi.org/10.1007/s00247-002-0846-9

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  • DOI: https://doi.org/10.1007/s00247-002-0846-9

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