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Chondrodysplasia punctata, tibia-metacarpal (MT) type

✍ Scribed by Rittler, M. ;Menger, H. ;Spranger, J.


Book ID
102700340
Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
762 KB
Volume
37
Category
Article
ISSN
0148-7299

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Chondrodysplasia punctata, humero-metaca
✍ Fryburg, Julie S.; Kelly, Thaddeus E. πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 329 KB

W e report on a boy with symmetrical rhizomelic shortness of the upper limbs and punctate epiphyseal calcifications noted at birth. Radiographs documented short and wide humeri, symmetrical brachymetacarpy, coronal clefts of the veretebrae, and punctate calcifications in the spine, sacrum, shoulder,