Wedge-shaped epiphyses of the knees in two siblings

A new recessive rare dysplasia?

F. Bellini, G. Chiumello, R. Rimoldi, G. Weber

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

A peculiar form of metaphyseal dysplasia, mainly of the lower limbs, occurred in two male siblings born to healthy, unrelated parents. The clinical and radiological features were short stature, psychomotor retardation, accelerated bone maturation, the limbs and especially the knees showing cup-shaped widening of the ends of the metaphyses and wedge-shaped widening of the epiphyses. This condition does not fit the description of any syndrome reported so far and may therefore be classified as a new recessive dysplasia.

Original languageEnglish
Pages (from-to)365-372
Number of pages8
JournalHelvetica Paediatrica Acta
Volume39
Issue number4
Publication statusPublished - 1984

Fingerprint

Epiphyses
Lower Extremity
Knee
Extremities
Bone and Bones
Pyle disease
Metaphyseal acroscyphodysplasia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Wedge-shaped epiphyses of the knees in two siblings : A new recessive rare dysplasia? / Bellini, F.; Chiumello, G.; Rimoldi, R.; Weber, G.

In: Helvetica Paediatrica Acta, Vol. 39, No. 4, 1984, p. 365-372.

Research output: Contribution to journalArticle

Bellini, F. ; Chiumello, G. ; Rimoldi, R. ; Weber, G. / Wedge-shaped epiphyses of the knees in two siblings : A new recessive rare dysplasia?. In: Helvetica Paediatrica Acta. 1984 ; Vol. 39, No. 4. pp. 365-372.
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