Results 181 to 190 of about 143,001 (214)

Diagnosis of thanatophoric dysplasia using clinical exome screening.

Ceska gynekologie, 2023
Bone dysplasias are a broad, heterogeneous group of diseases. Thanatophoric dysplasia is a rare bone dysplasia, but it is the most common lethal skeletal dysplasias.
M. Holub, M. Sekowská, D. Smetanová, M. Koudova, K. Sobolová, A. Šinská, H. Heřman   +6 more
semanticscholar   +1 more source

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 Type 1 Treated with Vosoritide: A Case Report.

Hormone Research in Paediatrics
BACKGROUND Thanatophoric dysplasia type 1 (TD1) is the most severe form of FGFR3-related skeletal dysplasia, with high perinatal mortality and no approved pharmacologic therapies.
Rodrigo Montero-Lopez, Alexandra Blaschitz, Katharina Karas, Tanja Fritz, Elisabeth Laurer, Uvistra Naidoo, W. Högler   +6 more
semanticscholar   +1 more source

Laparoscopic herniorrhaphy for inguinal hernia with thanatophoric dysplasia: A case report

Asian Journal of Endoscopic Surgery
Thanatophoric dysplasia (TD) is a rare and severe type of skeletal dysplasia. Typical clinical findings include macrocephaly, shortening of the four limbs, underdeveloped lungs, and thoracic hypoplasia.
Keiichiro Tanaka, Kumpei Abe, Masato Koizumi, Toshiaki Takahashi, Hiroshi Sugiura   +4 more
semanticscholar   +1 more source

THANATOPHORIC DWARFISM - A LETHAL SKELETAL DYSPLASIA

International journal of scientific research
Thanatophoric dwarfism is a lethal, congenital skeletal dysplasia caused by mutations in the FGFR3 gene. It is characterized by extreme shortening of the limbs, narrow thorax, macrocephaly, and distinctive facial and skeletal abnormalities.
Bhanu Prakash Inukonda, Harischandra Yv
semanticscholar   +1 more source

Thanatophoric Dysplasia: Ultrasound Diagnosis

Ultrasound Quarterly, 2001
Six 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 ...
L E, Machado, F, Bonilla-Musoles, F, Raga, F, Bonilla, F, Machado, N G, Osborne   +5 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.
D, Sato, Y, Hosokawa, Y, Nakamura, T, Mukae, T, Nakashima, Y, Komatsu, S, Kabashima   +6 more
openaire   +2 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.
C L, Coulter, R W, Leech, R A, Brumback, G B, Schaefer   +3 more
openaire   +2 more sources

Thanatophoric dysplasia and cloverleaf skull

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 ...
Leonard O. Langer, S. Samuel Yang, Judith G. Hall, Annemarie Sommer, Sambasiva R. Kottamasu, Mahin Golabi, Natalie Krassikoff, John M. Opitz, Jay Bernstein   +8 more
openaire   +2 more sources