Thanatophoric Dwarfism

  title={Thanatophoric Dwarfism},
  author={Mark R. Nissenbaum Nissenbaum and Stanley M. K. Chung and Henrietta Kotlus Rosenberg and Billy E. Buck},
  journal={Clinical Pediatrics},
  pages={690 - 697}
Thanatophoric dwarfism is a severe form of short-limbed dwarfism in which cardiorespiratory failure uniformly results in death in the neonatal period. Its radiographic features include markedly flattened vertebral bodies with a typical U-shaped deformity, a flat squat pelvis, and short, bowed extremities with flaring and irregularity of the metaphyses. These char acteristic features distinguish this entity from the two other most commonly confused congenital short-limbed forms of dwarfism… 
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Figures from this paper

Thanatophoric dysplasia with cloverleaf-skull
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, but they serve to elucidate some crucial unanswered questions.
The role of mesenchyme-like tissue in the pathogenesis of thanatophoric dysplasia.
A basic pathogenetic mechanism in the skeletal abnormalities of TD appears to be the focal replacement of the growth plate and periosteum by persisting abnormal mesenchymal-like tissue from which the abnormal bone originates.


Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism.
  • R. Saldino
  • Medicine
    The American journal of roentgenology, radium therapy, and nuclear medicine
  • 1971
Histologically, enchondral ossification is strikingly disorganized and matrix is lacking between the resting cartilage cells, and the condition may be differentiated from thanatophoric dwarfism and the other short-limbed types of dwarfs.
Thanatophoric dwarfism and cloverleaf skull ("kleeblattschädel").
Four cases of thanatophoric dwarfism are presented, including 2 with an associated cloverleaf skull deformity (“kleeblattschadel”). Both entities are radiologically distinct. Distinguishing features
Achondroplasia and thanatophoric dwarfism in the newborn
It is concluded that both the birth rate and the perinatal mortality rate for achondroplasia are much lower than was previously believed.
Dwarfism in the newborn: the nomenclature, radiological features and genetic significance.
A group of conditions causing dwarfism in infants has been specified as osteochondrodysplasia in the Paris nomenclature for intrinsic diseases of bone and they can now be differentiated from achondroplasia and similar conditions.
Lethal forms of chondrodysplastic dwarfism.
It is suggested that the differential diagnosis between thanatophoric dwarfism and achondrogenesis can be established unequivocally on radiographic grounds, as can the differentiation of these two lethal skeletal dysplasias from classic a chondroplasia.
The genetics of thanatophoric dwarfism.
Two cases of thanatophoric dwarfism are presented with guidelines for diagnosis and a discussion of possible genetic mechanisms, which favor a polygenic mechanism at the present time.
The lethal chondrodysplasias.
Pathological studies of epiphyseal cartilage confirm the separateness of the lethal chondrodysplasias with polydactyly but further work is necessary to specify the limits of variations.
Cloverleaf skull and thanatophoric dwarfism
There may be three distinct syndromes in patients with the cloverleaf skull deformity, and death may occur at birth, but survival into later childhood is the rule.