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(12) The tricho-rhino-phalangeal syndrome (a family with three affected members)

โœ Scribed by Dr Felix Besser; Dr R.S. Wells

Book ID
108654614
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
533 KB
Volume
95
Category
Article
ISSN
0007-0963

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๐Ÿ“œ SIMILAR VOLUMES

Tricho-rhino-phalangeal and branchio-oto
Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q
โœ Haan, E. A. ;Hull, Y. J. ;White, S. ;Cockington, R. ;Charlton, P. ;Callen, D. F. ๐Ÿ“‚ Article ๐Ÿ“… 1989 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 504 KB

Here we report on a family with an inherited rearrangement of chromosome 8q, dir ins(8)(q24.1 lq13.3q2 1.13). Individuals with the chromosome abnormality, which does not appear to be associated with deletion of chromosome material, have manifestations of both tricho-rhino-phalangeal syndrome (TRPS)

Synpolydactyly (type II syndactyly) with
Synpolydactyly (type II syndactyly) with aplasia/hypoplasia of the middle phalanges of the toes: Report on a family with eight affected members in four generations
โœ Camera, Gianni ;Camera, Andrea ;Pozzolo, Silvano ;Costa, Margherita ;Mantero, Re ๐Ÿ“‚ Article ๐Ÿ“… 1995 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 360 KB ๐Ÿ‘ 2 views

We describe a new family with synpolydactyly (syndactyly type 11) with 8 affected members in 4 generations. Aplasiahypoplasia of the middle phalanges of the toes was also noted. In our opinion, this anomaly represents a frequent manifestation of synpolydactyly. No other major skeletal or extraskelet