Thanatophoric dysplasia 1 is an autosomal dominant disorder caused by mutations of the FGFR3 gene. It is characterized by a short-limb dwarfism. Typical of type 1 is a curved femur and a cloverleaf skull may or may not be present. The disease is lethal in the perinatal period.
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None (1987) A boy with thanatophoric dysplasia surviving 212 days. |
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51. |
Borochowitz Z et al. (1986) A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia. |
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53. |
OMIM.ORG article Omim 187600 |
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Wikipedia article Wikipedia EN (Thanatophoric_dysplasia) |