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Thanatophoric Dysplasia

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Definition: A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.      Other names Thanatophoric Dysplasias; Thanatophoric Dwarfisms; Dysplasias, Thanatophoric; Dysplasia, Thanatophoric; Dwarfisms, Thanatophoric; Thanatophoric Dwarfism; Dwarfism, Thanatophoric
 
SubstanceCAS Registry & nameCategoriesSource
Larsen like syndrome, lethal type  0   *Abnormalities, Multiple *Dislocations/congenital *Thanatophoric Dysplasia.
Kozlowski Warren Fisher syndrome  0   *Bone Diseases, Developmental *Thanatophoric Dysplasia Skull/abnormalities.
Short limb dwarf lethal Colavita Kozlowski type  0   *Thanatophoric Dysplasia.
Skeletal dysplasia, San Diego type  0   *Craniosynostoses *Thanatophoric Dysplasia.
Thanatophoric dysplasia, type 2  0   *Thanatophoric Dysplasia Skull/abnormalities.
Thanatophoric dysplasia, type 1  0   *Thanatophoric Dysplasia.
Thanatophoric dysplasia Glasgow variant  0   *Thanatophoric Dysplasia.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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