ISSN:
1432-1076
Keywords:
Mesomelic dysplasia
;
Punctate epiphyseal calcifications
;
Short ulnae
;
Long fibulae
;
Characteristic face
;
Chondrodysplasia punctata
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Two unrelated girls presented the identical clinical and radiological findings of shortened middle limb segments, slight punctate epiphyseal calcification, relatively short distal ulnae and long proximal fibulae, dislocation of the radial heads and patellae, and a characteristic face. There were no cataracts or skin changes. Whether these findings represent a new entity of chondrodysplasia punctata or an unusual type of mesomelic dysplasia with punctate epiphyseal calcifications seems to be a matter of semantics. Differential diagnostic features regarding the different forms of mesomelic dysplasia and punctate epiphyseal calcifications are discussed.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00442333
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