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Thanatophoric dysplasia, type 2

Known as: Thanatophoric dysplasia with Kleeblattschaedel, Cloverleaf skull with thanatophoric dwarfism, TD2 
Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs.
National Institutes of Health

Related topics

Related topics

7 relations
Autosomal dominant inheritanceBrachydactylyDecreased fetal movementPolyhydramnios

Broader (1)

Bone structure of cranium

Papers overview

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2010
2010
Are oxygen uptake kinetics modified when using a respiratory snorkel?
PURPOSE The aim of this study was to compare VO2 kinetics during constant power cycle exercise measured using a conventional… 
2009
2009
Assessing the Susceptibility to Local Buckling at the Femoral Neck Cortex to Age-Related Bone Loss
Although it is known that long cortical bone structurally alter their area moment of inertia with age related bone loss… 
Review
2006
Review
2006
Thanatophoric dysplasia type 2 with encephalocele during the second trimester
Thanatophoric dysplasia (TD) has been reviewed extensively elsewhere, and more than 200 cases have been recorded [Cohen, 2000… 
2002
2002
Femoral anatomy, computed tomography and computer-aided design of prosthetic implants
Abstract. Precise digital data of the internal femoral anatomy are necessary to develop new prosthetic implants with computer… 
2002
2002
Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2
A fetus with thanatophoric dysplasia type 2 (TD2) associated with cloverleaf skull and abnormal development of the corpus… 
Review
1998
Review
1998
Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego type
Abstract The platyspondylic lethal skeletal dysplasias (PLSD) are a group of heterogeneous disorders including thanatophoric… 
1992
1992
Thanatophoric dysplasia of the straight-bone type (type 2).
We describe two cases of type 2 thanatophoric dysplasia. Cloverleaf skull and relatively straight, shortened long bones… 
1992
1992
Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings.
We present male monozygotic twins with thanatophoric dysplasia (TD) type I concordant for long bone abnormalities and discordant… 
1984
1984
Distinction of the roles of the two high-affinity calcium sites in the functional activities of the Ca2+-ATPase of sarcoplasmic reticulum.
The effects of trypsin digestion and low temperature on Ca2+ binding and on Ca2+ activation of ATP hydrolysis by the high… 
1937
1937
USE OF HOMOLOGOUS BONE GRAFTS IN CASES OF OSTEOGENESIS IMPERFECTA
Fractures in cases of osteogenesis imperfecta usually heal without difficulty, but at times, after repeated fractures at the same… 
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