Results 191 to 200 of about 2,478 (209)
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Thanatophoric Dysplasia: Ultrasound Diagnosis
Ultrasound Quarterly, 2001Six pregnant women with singleton fetuses were referred to our Prenatal Diagnostic Centers because of an initial diagnosis of intrauterine growth restriction (n = 4) or short femoral length (n = 2). We first examined the patients with two-dimensional (2D) ultrasonography (US), and then with three-dimensional (3D) US, and arrived at a definitive ...
Luiz Eduardo Machado +5 more
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Abnormal ossification in thanatophoric dysplasia
Bone, 1988Thanatophoric dysplasia (TD) is a lethal human bone dysplasia characterized by severe dwarfism. It pathogenesis is thought to involve an abnormal ossifying fibrous tissue that disrupts the skeletal growth plate. We employed a combined morphologic, immunohistochemical and biochemical approach to better define the nature of this tissue in growth plate ...
O.J. Hood +4 more
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Growth in Thanatophoric Dysplasia
2011Skeletal dysplasias are a complex group of disorders that are characterized by generalized abnormalities of the development of the skeletal growth. The majority of them result from a mutated gene. The bony presentation is characterized by abnormal growth of the limbs, absence of a limb, duplication of fingers or toes, or many other different bone ...
Elka Miller, Elysa Widjaja
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Thanatophoric dysplasia type I.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi, 2001Thanatophoric dysplasia is a sporadic, nearly always lethal congenital skeletal dysplasia. It is characterized by shortening of the limbs, a severely small thorax, macrocephaly, and platyspondyly. There are two major subtypes: a short, curved femur characterizes type I, and a straighter femur with cloverleaf skull characterizes type II.
Al-Min Ku Liu +3 more
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Thanatophoric dysplasia type I with syndactyly
American Journal of Medical Genetics, 1998We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys mutation in the fibroblast growth factor receptor 3 (FGFR3) gene with soft tissue syndactyly of the fingers and toes. Syndactyly has not been previously described in TD or other conditions with FGFR3 mutations, but occurs in several craniosynostosis syndromes due to ...
Mara Sifry-Platt +5 more
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Thanatophoric Dysplasia: Role of 3D Sonography
American Journal of Roentgenology, 2010AJR 2010; 194:W539 0361–803X/10/1946–W539 © American Roentgen Ray Society Thanatophoric Dysplasia: Role of 3D Sonography We thank Miller et al. [1] for their article in your journal highlighting the importance of prenatal imaging of the brain abnormalities associated with thanatophoric dysplasia.
Gwendolyn T. R. Manten +2 more
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Temporal-Lobe Abnormalities in Thanatophoric Dysplasia
Pediatric Neurosurgery, 1988We identified distinctive and characteristic abnormalities in the hippocampal formations of 4 individuals with thanatophoric dysplasia (TD), one of whom was a fetus of 19 weeks gestational age. Primitive medial fissures in this subject could be identified, but development of the dentate gyrus and organization of the pyramidal layer in the hippocampal ...
Mary W. Ambler, A.S. Knisely
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Thanatophoric dysplasia: An autosomal dominant condition?
American Journal of Medical Genetics, 1988AbstractWe present 13 cases of thanatophoric dysplasia collected in the Spanish Collaborative Study of Congenital Malformations from a total population of 517,970 births. The incidence (live and stillbirth) was 2.7 per 100,000 births. All cases were sporadic, and there was no evidence of parental consanguinity.
John M. Opitz +4 more
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Thanatophoric Dysplasia Type II
Journal of Pediatric Orthopaedics B, 1998There is some question about whether the two forms of thanatophoric dysplasia (TD), Type II with and Type I without cloverleaf skull, belong to the same entity. Thus, we investigated one 6-day-old TD with cloverleaf skull using examination of the external phenotype, radiology, autopsy, skeleton preparation, large section histology, detailed section ...
Reiner Johannisson +4 more
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Prenatal diagnosis of thanatophoric dysplasia at 24 weeks
American Journal of Medical Genetics, 1984AbstractWe report making the prenatal diagnosis of thanatophoric dysplasia at 24 weeks gestation. The ultrasound examination showed short limbs. By in utero radiological study, we could see the typical changes of this skeletal dysplasia. Radiological and histological studies confirmed the aborted fetus to be affected with thanatophoric dysplasia.
D Dodero, G Camera, S De Pascale
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