ISSN:
1432-1076
Keywords:
Thanatophoric dysplasia
;
Cloverleaf-skull
;
Dwarfism, neonatal
;
Histomorphology
;
Genetics
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract The radiologic and morphologic features of thanatophoric dysplasia with cloverleaf-skull could be demonstrated in a neonate who died from asphyxia shortly after birth. Occipital bone hemangiomatosis, a typical histomorphologic finding in cloverleaf-skull, is reported for the first time in a thanatophoric dwarf. Our investigations and the discussion of 26 observations of thanatophoric dysplasia with cloverleaf-skull reported since 1967 do not yet allow complete understanding of the pathogenetic relationship of both malformations. They serve, however, to elucidate some crucial unanswered questions which it is suggested should be studied in future observations of thanatophoric dysplasia with cloverleaf-skull.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00442186
Permalink
