Results 181 to 190 of about 2,478 (209)

Advances in the mechanism and therapies of achondroplasia. [PDF]

Genes Dis
Chen H, Zhang R, Jin M, Yang J, Chen L, Xie Y.   +5 more
europepmc   +1 more source

Thanatophoric dysplasia and cloverleaf skull [PDF]

American Journal of Medical Genetics, 1987
Nine infants with thanatophoric dysplasia (TD) and cloverleaf skull (CS) are reported. Twenty-two previously published CSTD cases are reviewed. These CSTD cases are compared to cases of TD without CS. It is concluded that there are two types of TD: type 1, with curved femora and very flat vertebral bodies; and type 2, with straight femora and taller ...
Sambasiva R. Kottamasu, Jay Bernstein, Annemarie Sommer, John M. Opitz, Mahin Golabi, Leonard O. Langer, Natalie Krassikoff, Judith G. Hall, S. Samuel Yang   +8 more
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Thanatophoric Dysplasia

Acta Pathologica Japonica, 1984
Two autopsy cases of thanatophoric dysplasia in male newborn infant are described. They have markedly short‐limbs and narrow thoraxes. Histologically, generalized disruption of endochondral ossification with normal resting cartilage was seen at the epiphyseal region of femur.
T, Tanaka, A, Nishikawa, S, Yamaguchi, T, Taguchi, S, Sugie, H, Shima, M, Fujii, H, Mori, M, Takahashi   +8 more
openaire   +2 more sources

THANATOPHORIC DYSPLASIA OF IDENTICAL TWINS

Acta Pathologica Japonica, 1981
The autopsy cases of thanatophoric dysplasia of identical female twins were reported. These babies showed short limbs, long and narrow thoraxes, and depressed nasal roots. Disorganization of endochondral ossification and hypertrophic periosteum were recognized histologically at the epiphyseal plate of femur.
Yasuhiro Nakamuba, Teruyuki Nakashima, Toshihiko Mukae, Yoshiaki Hosokawa, Daiji Sato, Yoshiharu Komatsu, Shyoichi Kabashima   +6 more
openaire   +3 more sources

Cerebral abnormalities in thanatophoric dysplasia

Child's Nervous System, 1991
Neuropathologic evaluation of two infants with thanatophoric dysplasia displayed typical gross morphologic characteristics and a distinct pattern of brain malformations, including anomalies of the temporal lobe gyri and hippocampus, neuroglial heterotopias, fiber tract hypoplasia, and dysplasia of deep nuclei.
G B Schaefer, Roger A. Brumback, C L Coulter, Richard W. Leech   +3 more
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Growth and development in thanatophoric dysplasia

American Journal of Medical Genetics, 1989
AbstractTwo cases of prolonged survival of thanatophoric dysplasia are presented, in which ventilatory support was initiated in the neonatal period because of respiratory distress. Both patients required a ventriculoperitoneal shunt for hydrocephalus and had decompression of the posterior fossa.
I. M. Macdonald, Alasdair G. W. Hunter, S. B. Macmurray, Patrick MacLeod   +3 more
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Neuropathologic findings in thanatophoric dysplasia

Acta Neuropathologica, 1984
Neuropathologic study of eight cases of thanatophoric dysplasia (dwarfism) reveals developmental abnormalities including hypoplasia of posterior fossa, megalencephaly, cerebral gyral disorganization, hippocampal malformation, neuronal heterotopia, nuclear dysplasia, and abnormal axonal bundles.
S. Samuel Yang, K. L. Ho, C. H. Chang, J. L. Chason   +3 more
openaire   +3 more sources

Thanatophoric Dysplasia With Cloverleaf Skull

Archives of Pediatrics & Adolescent Medicine, 1983
Thanatophoric dysplasia with cloverleaf skull is a congenital anomaly characterized by a bizarre form of hydrocephalus and a uniformly fatal, shortlimbed chondrodysplasia. We report a case of associated cardiac anomalies, with a review of all previous known reports.
Karin J. Blakemore, Frank A. Chervenak, Glenn Isaacson   +2 more
openaire   +3 more sources