Brachytelephalangy with sparing of the fifth distal phalanx

A feature highly suggestive of Keutel syndrome

Research output: Contribution to journalReview article

10 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)186-189
Number of pages4
JournalPediatric Radiology
Volume33
Issue number3
DOIs
StatePublished - Mar 1 2003
Externally publishedYes

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Pulmonary Valve Stenosis
Nose
Hand
Keutel syndrome

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Radiology Nuclear Medicine and imaging

Cite this

Brachytelephalangy with sparing of the fifth distal phalanx : A feature highly suggestive of Keutel syndrome. / Miller, Stephen.

In: Pediatric Radiology, Vol. 33, No. 3, 01.03.2003, p. 186-189.

Research output: Contribution to journalReview article

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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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AB - 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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