THANATOPHORIC DYSPLASIA

Thanatophoric dysplasia is the most common lethal skeletal belonging to the group of osteochondrodysplasias. Neonates usually die shortly after birth from respiratory failure secondary to the lung hypoplasia. In some affected cases gliosis and necrosis of the rostral cervical spinal cord may also be an important factor in early neonatal death. Prolonged survival of up to 5.2 years of age has been described (1).

Inheritance - sporadic or a new autosomal dominant mutation. It has been suggested that mutations in the fibroblast growth factor receptor 3 (FGFR3)(2).

CLASSIFICATION

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ULTRASOUND

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DIFFERENTIAL DIAGNOSIS

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REFERENCES

1. Jasnosz KM, MacPherson TA. Perinatal pathology casebook. Thanatophoric dysplasia with cloverleaf skull J Perinatol 1993;13:162-164.
2. Tavormina PL, Shiang R, Thompson LM et.al. Thanatophoric dysplasias (types I and II) caused by distinct mutations in fibroblast growth factor 3. Nat Genet 1995;9:321-328.