๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

A new lethal sclerosing bone dysplasia

โœ Scribed by H. M. Kingston; J. S. Freeman; C. M. Hall

Publisher
Springer
Year
1991
Tongue
English
Weight
877 KB
Volume
20
Category
Article
ISSN
0364-2348

No coin nor oath required. For personal study only.

โœฆ Synopsis

A neonate is described with a lethal sclerosing bone dysplasia associated with prenatal fractures and craniofacial abnormalities including microcephaly, exophthalmos, hypoplastic nose and mid-face, small jaw and nodular hyperptasia of the gums. Parental consanguinity suggests that an autosomal recessive mutation is the likely aetiology.

๐Ÿ“œ SIMILAR VOLUMES

New distinct lethal osteosclerotic bone
New distinct lethal osteosclerotic bone dysplasia (Raine syndrome)
โœ Kan, A. E. ;Kozlowski, K. ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 511 KB

We report a third case of a rare neonatal lethal sclerotic bone disorder with distinct craniofa-cia1 anomalies and striking radiographic and hitherto undescribed histopathologic features. The remarkable similarity between our patient and 2 recently reported infants suggests strongly a distinct entit

Mixed sclerosing bone dysplasia coexisti
Mixed sclerosing bone dysplasia coexisting with dysplasia epiphysealis hemimelica (Trevor-Fairbank disease)
โœ Adam Greenspan; German Steiner; Danilo Sotelo; Alex Norman; Abelardo Sotelo; Fed ๐Ÿ“‚ Article ๐Ÿ“… 1986 ๐Ÿ› Springer ๐ŸŒ English โš– 926 KB

The coexistence of mixed sclerosing bone dysplasia and dysplasia epiphysealis hemimelica is a rare anomaly. This combination of abnormalities has not been previously reported. The clinical, radiographic, and pathologic features of this condition are discussed and the methods of treatment of articula